Variants with conflicting interpretations studied for ADGRV1-related disorder

Minimum review status of the submission for ADGRV1-related disorder:		Collection method of the submission for ADGRV1-related disorder:
Minimum review status of the other submission:		Collection method of the other submission:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition	Variants with at least 2 submissions on the same condition and no conflicts	Variants with a synonymous conflict (e.g. benign vs non-pathogenic)	Variants with a confidence conflict (e.g. benign vs likely benign)	Variants with a benign or likely benign vs uncertain conflict	Variants with a category conflict (e.g. benign vs affects)	Variants with a clinically significant conflict (e.g. benign vs pathogenic)	Variants with any conflict
24	49	0	54	74	0	3	110

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

	All conditions
ADGRV1-related disorder		pathogenic	likely pathogenic	uncertain significance	likely benign	benign
	pathogenic	0	3	0	0	0
	likely pathogenic	5	0	2	0	0
	uncertain significance	0	1	0	23	1
	likely benign	0	0	49	0	36
	benign	0	0	2	10	0

Condition to condition summary #

Total conditions: 4

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Condition	Variants with at least 2 submissions on the same condition and no conflicts	Variants with a confidence conflict (e.g. benign vs likely benign)	Variants with a benign or likely benign vs uncertain conflict	Variants with a clinically significant conflict (e.g. benign vs pathogenic)	Variants with any conflict
not provided	53	46	71	1	104
not specified	51	29	14	0	41
Abnormal activity of mitochondrial respiratory chain	0	0	0	1	1
Monogenic hearing loss	0	0	0	1	1

All variants with conflicting interpretations #

Total variants: 110

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HGVS	dbSNP	gnomAD frequency
NM_032119.4(ADGRV1):c.8407G>A (p.Ala2803Thr)	rs111033530	0.01088
NM_032119.4(ADGRV1):c.3482C>G (p.Ser1161Cys)	rs147062294	0.00462
NM_032119.4(ADGRV1):c.5525-7C>T	rs137853919	0.00440
NM_032119.4(ADGRV1):c.10796G>C (p.Gly3599Ala)	rs145294917	0.00394
NM_032119.4(ADGRV1):c.8691A>C (p.Glu2897Asp)	rs201586455	0.00391
NM_032119.4(ADGRV1):c.12269C>A (p.Thr4090Asn)	rs199839743	0.00356
NM_032119.4(ADGRV1):c.18746T>G (p.Leu6249Arg)	rs41311625	0.00324
NM_032119.4(ADGRV1):c.6317C>T (p.Ala2106Val)	rs186999408	0.00271
NM_032119.4(ADGRV1):c.22+9T>C	rs368604803	0.00236
NM_032119.4(ADGRV1):c.463A>G (p.Ile155Val)	rs199873924	0.00221
NM_032119.4(ADGRV1):c.10126A>G (p.Ile3376Val)	rs200528472	0.00195
NM_032119.4(ADGRV1):c.3191A>C (p.Glu1064Ala)	rs190922596	0.00195
NM_032119.4(ADGRV1):c.11568T>C (p.Val3856=)	rs143004930	0.00194
NM_032119.4(ADGRV1):c.14943G>C (p.Gln4981His)	rs200153555	0.00189
NM_032119.4(ADGRV1):c.3151G>T (p.Asp1051Tyr)	rs145556097	0.00189
NM_032119.4(ADGRV1):c.1522A>C (p.Ile508Leu)	rs61744480	0.00184
NM_032119.4(ADGRV1):c.12527+6G>T	rs141701016	0.00180
NM_032119.4(ADGRV1):c.11201T>C (p.Val3734Ala)	rs113498662	0.00172
NM_032119.4(ADGRV1):c.8088G>A (p.Leu2696=)	rs373069459	0.00166
NM_032119.4(ADGRV1):c.3443G>A (p.Gly1148Asp)	rs200945405	0.00159
NM_032119.4(ADGRV1):c.15786C>T (p.Phe5262=)	rs369083434	0.00149
NM_032119.4(ADGRV1):c.5072C>T (p.Thr1691Met)	rs146954342	0.00145
NM_032119.4(ADGRV1):c.1086A>G (p.Leu362=)	rs186639101	0.00139
NM_032119.4(ADGRV1):c.8815C>T (p.Pro2939Ser)	rs202211640	0.00137
NM_032119.4(ADGRV1):c.11974G>A (p.Asp3992Asn)	rs201386977	0.00131
NM_032119.4(ADGRV1):c.2023A>C (p.Ile675Leu)	rs200187681	0.00115
NM_032119.4(ADGRV1):c.4214C>T (p.Ser1405Phe)	rs41305898	0.00104
NM_032119.4(ADGRV1):c.8572A>G (p.Ile2858Val)	rs41308297	0.00088
NM_032119.4(ADGRV1):c.16285G>A (p.Glu5429Lys)	rs183851734	0.00086
NM_032119.4(ADGRV1):c.17758C>A (p.Leu5920Ile)	rs202110635	0.00080
NM_032119.4(ADGRV1):c.9083A>G (p.Asn3028Ser)	rs150549897	0.00080
NM_032119.4(ADGRV1):c.1033C>A (p.Gln345Lys)	rs201236317	0.00076
NM_032119.4(ADGRV1):c.18470A>G (p.Asn6157Ser)	rs200111522	0.00075
NM_032119.4(ADGRV1):c.10563T>C (p.Leu3521=)	rs200946170	0.00074
NM_032119.4(ADGRV1):c.5282C>G (p.Ser1761Cys)	rs200392821	0.00067
NM_032119.4(ADGRV1):c.15177G>T (p.Gln5059His)	rs201416399	0.00066
NM_032119.4(ADGRV1):c.2459A>G (p.Asn820Ser)	rs144918959	0.00064
NM_032119.4(ADGRV1):c.2740T>C (p.Tyr914His)	rs189967386	0.00064
NM_032119.4(ADGRV1):c.1131T>G (p.Ser377=)	rs200435877	0.00062
NM_032119.4(ADGRV1):c.10149C>T (p.Ser3383=)	rs376298949	0.00054
NM_032119.4(ADGRV1):c.1837C>A (p.Gln613Lys)	rs199587998	0.00054
NM_032119.4(ADGRV1):c.16312A>G (p.Thr5438Ala)	rs201890097	0.00052
NM_032119.4(ADGRV1):c.13654-7C>T	rs373551551	0.00048
NM_032119.4(ADGRV1):c.2112G>A (p.Pro704=)	rs182990046	0.00046
NM_032119.4(ADGRV1):c.1849G>A (p.Val617Met)	rs199988872	0.00044
NM_032119.4(ADGRV1):c.16331C>A (p.Thr5444Lys)	rs370906851	0.00039
NM_032119.4(ADGRV1):c.18040T>C (p.Phe6014Leu)	rs201420881	0.00039
NM_032119.4(ADGRV1):c.357+8C>T	rs376004946	0.00039
NM_032119.4(ADGRV1):c.10339G>A (p.Glu3447Lys)	rs397517419	0.00038
NM_032119.4(ADGRV1):c.9440G>A (p.Arg3147Gln)	rs200792658	0.00037
NM_032119.4(ADGRV1):c.1718G>T (p.Gly573Val)	rs200789563	0.00036
NM_032119.4(ADGRV1):c.14466G>A (p.Val4822=)	rs117641264	0.00030
NM_032119.4(ADGRV1):c.596G>T (p.Ser199Ile)	rs61745496	0.00030
NM_032119.4(ADGRV1):c.3022+8T>C	rs375286987	0.00027
NM_032119.4(ADGRV1):c.17657C>A (p.Ala5886Asp)	rs201254386	0.00026
NM_032119.4(ADGRV1):c.3741G>A (p.Glu1247=)	rs371571867	0.00025
NM_032119.4(ADGRV1):c.7873C>T (p.Arg2625Cys)	rs201583659	0.00025
NM_032119.4(ADGRV1):c.6443C>T (p.Ala2148Val)	rs375921325	0.00022
NM_032119.4(ADGRV1):c.12349C>T (p.Arg4117Cys)	rs138908576	0.00020
NM_032119.4(ADGRV1):c.12350G>A (p.Arg4117His)	rs202067248	0.00019
NM_032119.4(ADGRV1):c.18782T>C (p.Leu6261Ser)	rs557331348	0.00019
NM_032119.4(ADGRV1):c.6994A>T (p.Ile2332Phe)	rs193030567	0.00019
NM_032119.4(ADGRV1):c.18754G>A (p.Asp6252Asn)	rs201800819	0.00016
NM_032119.4(ADGRV1):c.2596C>T (p.Arg866Trp)	rs200389929	0.00015
NM_032119.4(ADGRV1):c.1317C>T (p.Ser439=)	rs368171530	0.00014
NM_032119.4(ADGRV1):c.2456G>A (p.Ser819Asn)	rs182395524	0.00014
NM_032119.4(ADGRV1):c.18349G>A (p.Val6117Met)	rs200062593	0.00013
NM_032119.4(ADGRV1):c.12476A>C (p.His4159Pro)	rs200805176	0.00012
NM_032119.4(ADGRV1):c.500T>C (p.Met167Thr)	rs201758835	0.00011
NM_032119.4(ADGRV1):c.8651T>C (p.Val2884Ala)	rs111033517	0.00011
NM_032119.4(ADGRV1):c.18001A>T (p.Met6001Leu)	rs200530343	0.00010
NM_032119.4(ADGRV1):c.5408C>A (p.Ser1803Tyr)	rs371348667	0.00010
NM_032119.4(ADGRV1):c.14373T>A (p.Ala4791=)	rs375062187	0.00009
NM_032119.4(ADGRV1):c.15113T>C (p.Ile5038Thr)	rs192561791	0.00008
NM_032119.4(ADGRV1):c.17342A>G (p.Gln5781Arg)	rs369717492	0.00008
NM_032119.4(ADGRV1):c.3974C>T (p.Thr1325Met)	rs756414393	0.00007
NM_032119.4(ADGRV1):c.6174A>T (p.Ile2058=)	rs370197017	0.00007
NM_032119.4(ADGRV1):c.11253C>T (p.Tyr3751=)	rs376689763	0.00005
NM_032119.4(ADGRV1):c.14970C>A (p.Leu4990=)	rs368420512	0.00005
NM_032119.4(ADGRV1):c.17187C>T (p.Cys5729=)	rs371639191	0.00005
NM_032119.4(ADGRV1):c.2474A>T (p.Asn825Ile)	rs374034519	0.00004
NM_032119.4(ADGRV1):c.4171G>A (p.Glu1391Lys)	rs766007827	0.00004
NM_032119.4(ADGRV1):c.5587G>A (p.Val1863Ile)	rs529184143	0.00004
NM_032119.4(ADGRV1):c.6578T>C (p.Ile2193Thr)	rs201999622	0.00004
NM_032119.4(ADGRV1):c.10932T>C (p.Ile3644=)	rs773318505	0.00003
NM_032119.4(ADGRV1):c.11071G>A (p.Ala3691Thr)	rs370941998	0.00003
NM_032119.4(ADGRV1):c.3958C>T (p.Arg1320Cys)	rs532745096	0.00003
NM_032119.4(ADGRV1):c.5313+4A>G	rs748976832	0.00003
NM_032119.4(ADGRV1):c.8308T>C (p.Phe2770Leu)	rs375272281	0.00003
NM_032119.4(ADGRV1):c.-26_-9del	rs773996398	0.00001
NM_032119.4(ADGRV1):c.1054C>A (p.Pro352Thr)	rs755371825	0.00001
NM_032119.4(ADGRV1):c.1140A>G (p.Gln380=)	rs373902384	0.00001
NM_032119.4(ADGRV1):c.12211C>T (p.Arg4071Ter)	rs1163308590	0.00001
NM_032119.4(ADGRV1):c.13549A>G (p.Ile4517Val)	rs778908807	0.00001
NM_032119.4(ADGRV1):c.14975C>G (p.Ser4992Ter)	rs900228710	0.00001
NM_032119.4(ADGRV1):c.2800C>G (p.Pro934Ala)	rs149600158	0.00001
NM_032119.4(ADGRV1):c.2820A>G (p.Val940=)	rs369910075	0.00001
NM_032119.4(ADGRV1):c.7705G>A (p.Val2569Ile)	rs763494037	0.00001
NM_032119.4(ADGRV1):c.10088_10091del (p.Val3363fs)	rs1292664749
NM_032119.4(ADGRV1):c.1176_1179del (p.Leu393fs)	rs1166741724
NM_032119.4(ADGRV1):c.13130C>A (p.Pro4377His)	rs542081391
NM_032119.4(ADGRV1):c.13434-12_13434-10del	rs1176092482
NM_032119.4(ADGRV1):c.17017A>G (p.Lys5673Glu)	rs41303350
NM_032119.4(ADGRV1):c.1799A>G (p.Asn600Ser)	rs876657823
NM_032119.4(ADGRV1):c.18433-9_18433-5del	rs35858094
NM_032119.4(ADGRV1):c.18803-4G>T	rs80335659
NM_032119.4(ADGRV1):c.5311C>T (p.Gln1771Ter)	rs727503074
NM_032119.4(ADGRV1):c.5953A>C (p.Asn1985His)	rs41303352
NM_032119.4(ADGRV1):c.8730+9_8730+10del	rs780180737
NM_032119.4(ADGRV1):c.9178dup (p.Thr3060fs)	rs1749485242

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