ClinVar Miner

Variants with conflicting interpretations studied for Autosomal recessive retinitis pigmentosa

Coded as:
Minimum review status of the submission for Autosomal recessive retinitis pigmentosa: Collection method of the submission for Autosomal recessive retinitis pigmentosa:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

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
87 119 0 36 43 0 13 86

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
Autosomal recessive retinitis pigmentosa pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 35 10 3 1
uncertain significance 1 1 0 40 6
likely benign 0 0 0 0 1

Condition to condition summary #

Total conditions: 7
Download table as spreadsheet
Condition 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
not provided 0 119 0 32 42 0 12 82
EYS-related disorder 0 3 0 1 4 0 0 5
not specified 0 6 0 0 3 0 2 5
See cases 0 2 0 2 0 0 0 2
ABCA4-related disorder 0 2 0 0 0 0 1 1
Abnormality of the eye 0 2 0 1 0 0 0 1
PROM1-related disorder 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 86
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006269.2(RP1):c.5008G>A (p.Ala1670Thr) rs446227 0.21985
NM_001142800.2(EYS):c.977G>A (p.Ser326Asn) rs112822256 0.00350
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_001142800.2(EYS):c.4554A>C (p.Thr1518=) rs772339340 0.00124
NM_178857.6(RP1L1):c.5959C>T (p.Gln1987Ter) rs200846354 0.00119
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile) rs201162411 0.00116
NM_001142800.2(EYS):c.5233G>A (p.Asp1745Asn) rs145274061 0.00108
NM_001142800.2(EYS):c.9185A>G (p.Asn3062Ser) rs553840761 0.00101
NM_001142800.2(EYS):c.6394C>T (p.Leu2132=) rs149332790 0.00099
NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys) rs61748549 0.00066
NM_001142800.2(EYS):c.6828C>T (p.Ala2276=) rs373606872 0.00051
NM_001142800.2(EYS):c.2598C>T (p.Cys866=) rs183814213 0.00040
NM_001142800.2(EYS):c.2553C>T (p.Asn851=) rs771641817 0.00037
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln) rs28937873 0.00032
NM_006017.3(PROM1):c.604C>G (p.Arg202Gly) rs140872693 0.00025
NM_001142800.2(EYS):c.2813A>G (p.Lys938Arg) rs367857088 0.00023
NM_001142800.2(EYS):c.6876T>C (p.Asn2292=) rs774188028 0.00021
NM_001142800.2(EYS):c.6732A>G (p.Thr2244=) rs899618893 0.00016
NM_001142800.2(EYS):c.453T>A (p.Val151=) rs373183802 0.00015
NM_001142800.2(EYS):c.5025T>C (p.Ser1675=) rs995130689 0.00015
NM_001142800.2(EYS):c.5104T>C (p.Leu1702=) rs564151798 0.00012
NM_001142800.2(EYS):c.7284A>C (p.Ser2428=) rs775877185 0.00009
NM_001142800.2(EYS):c.4392G>T (p.Gly1464=) rs745673114 0.00008
NM_001142800.2(EYS):c.8233+9G>A rs779154270 0.00007
NM_001142800.2(EYS):c.-209C>T rs1004023794 0.00006
NM_001142800.2(EYS):c.1461A>T (p.Gly487=) rs376870255 0.00006
NM_001142800.2(EYS):c.9392G>C (p.Gly3131Ala) rs772888249 0.00006
NM_145290.4(ADGRA3):c.2504C>G (p.Ser835Cys) rs562486549 0.00006
NM_001142800.2(EYS):c.33G>C (p.Leu11=) rs777361054 0.00005
NM_001142800.2(EYS):c.1470C>T (p.Gly490=) rs778161042 0.00003
NM_001142800.2(EYS):c.1999C>T (p.Arg667Cys) rs765763663 0.00003
NM_001142800.2(EYS):c.6726-7C>T rs886782734 0.00003
NM_001142800.2(EYS):c.8163A>G (p.Gln2721=) rs370845590 0.00003
NM_015047.3(EMC1):c.430G>A (p.Ala144Thr) rs869320623 0.00003
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met) rs28939720 0.00003
NM_001142800.2(EYS):c.-351C>T rs761045622 0.00002
NM_001142800.2(EYS):c.6050G>T (p.Gly2017Val) rs868349465 0.00002
NM_003322.6(TULP1):c.1256G>A (p.Arg419Gln) rs770045008 0.00002
NM_018418.5(SPATA7):c.288T>A (p.Cys96Ter) rs767745816 0.00002
NM_000350.3(ABCA4):c.3482G>A (p.Arg1161His) rs768278935 0.00001
NM_000350.3(ABCA4):c.4793C>A (p.Ala1598Asp) rs61750155 0.00001
NM_001142800.2(EYS):c.1314A>G (p.Pro438=) rs375043207 0.00001
NM_001142800.2(EYS):c.3420G>A (p.Gly1140=) rs1325335839 0.00001
NM_001142800.2(EYS):c.5262G>A (p.Pro1754=) rs779784002 0.00001
NM_001142800.2(EYS):c.5329T>C (p.Leu1777=) rs1042931370 0.00001
NM_001142800.2(EYS):c.7122T>C (p.Ser2374=) rs890076073 0.00001
NM_001142800.2(EYS):c.7170C>T (p.Ser2390=) rs201364943 0.00001
NM_001142800.2(EYS):c.7803T>C (p.Asn2601=) rs1342639553 0.00001
NM_001142800.2(EYS):c.8337C>T (p.Asn2779=) rs745351348 0.00001
NM_001142800.2(EYS):c.8634C>T (p.Ala2878=) rs763174826 0.00001
NM_001278293.3(ARL6):c.362G>A (p.Arg121His) rs765715798 0.00001
NM_001297.5(CNGB1):c.2293C>T (p.Arg765Cys) rs771833874 0.00001
NM_006017.3(PROM1):c.2130+2del rs768303070 0.00001
NM_016247.4(IMPG2):c.3262C>T (p.Arg1088Ter) rs199867882 0.00001
NM_016247.4(IMPG2):c.513T>G (p.Tyr171Ter) rs763295314 0.00001
NM_206933.4(USH2A):c.14294T>C (p.Val4765Ala) rs763127023 0.00001
NM_000283.4(PDE6B):c.1010A>G (p.His337Arg) rs1736178477
NM_000326.5(RLBP1):c.286_297del (p.Phe96_Phe99del) rs786205626
NM_000329.3(RPE65):c.1366del (p.Glu456fs) rs786205444
NM_000350.3(ABCA4):c.1630_1633dup (p.Asn545fs) rs793888523
NM_000350.3(ABCA4):c.2815G>T (p.Glu939Ter) rs786205447
NM_000350.3(ABCA4):c.5391_5392del (p.Cys1797_Ala1798insTer) rs786205445
NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser) rs141252097
NM_001142800.2(EYS):c.-350G>A rs886061687
NM_001142800.2(EYS):c.151T>C (p.Leu51=) rs757997501
NM_001142800.2(EYS):c.1599+7T>C rs755565799
NM_001142800.2(EYS):c.1698T>C (p.Asn566=) rs1156347961
NM_001142800.2(EYS):c.179del (p.Leu60fs) rs786205652
NM_001142800.2(EYS):c.359C>G (p.Thr120Arg) rs12193967
NM_001142800.2(EYS):c.5600C>T (p.Ser1867Phe) rs542339299
NM_001142800.2(EYS):c.6444A>G (p.Pro2148=) rs556671009
NM_001142800.2(EYS):c.7260C>T (p.Gly2420=) rs1770908773
NM_001142800.2(EYS):c.7579-11dup rs1044534941
NM_001142800.2(EYS):c.9156T>C (p.Asn3052=) rs1768354975
NM_004744.5(LRAT):c.233_242del (p.Leu78fs) rs786205644
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs) rs543698823
NM_006269.2(RP1):c.1719_1723del (p.Ser574fs) rs750542962
NM_006343.3(MERTK):c.1604+2T>G rs786205534
NM_006343.3(MERTK):c.2262C>G (p.Tyr754Ter) rs786205535
NM_006343.3(MERTK):c.325A>T (p.Lys109Ter) rs786205533
NM_014249.4(NR2E3):c.951del (p.Thr318fs) rs11351249
NM_016247.4(IMPG2):c.2274G>A (p.Trp758Ter) rs786205564
NM_201253.3(CRB1):c.1180T>C (p.Cys394Arg) rs786205450
NM_201253.3(CRB1):c.2330_2336del (p.Pro777fs) rs786205610
NM_201253.3(CRB1):c.80G>T (p.Cys27Phe) rs1460946384
NM_201548.5(CERKL):c.812T>C (p.Ile271Thr) rs786205545

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