ClinVar Miner

Variants with conflicting interpretations studied for NOTCH1-related disorder

Minimum review status of the submission for NOTCH1-related disorder: Collection method of the submission for NOTCH1-related disorder:
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
97 81 0 47 22 0 1 65

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
NOTCH1-related disorder pathogenic uncertain significance likely benign benign
likely pathogenic 1 1 0 0
uncertain significance 0 0 6 0
likely benign 0 16 0 31
benign 0 0 15 0

Condition to condition summary #

Total conditions: 2
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 specified 0 42 0 34 8 0 0 41
not provided 0 97 0 23 16 0 1 37

All variants with conflicting interpretations #

Total variants: 65
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_017617.5(NOTCH1):c.64C>T (p.Pro22Ser) rs114832250 0.00587
NM_017617.5(NOTCH1):c.6397C>T (p.Pro2133Ser) rs61733294 0.00484
NM_017617.5(NOTCH1):c.6870C>T (p.Ser2290=) rs61751488 0.00369
NM_017617.5(NOTCH1):c.4536C>T (p.Ala1512=) rs61751540 0.00358
NM_017617.5(NOTCH1):c.5673C>T (p.Ser1891=) rs2229972 0.00289
NM_017617.5(NOTCH1):c.7338G>A (p.Leu2446=) rs35320927 0.00277
NM_017617.5(NOTCH1):c.5988G>A (p.Thr1996=) rs186453356 0.00236
NM_017617.5(NOTCH1):c.4887C>T (p.His1629=) rs61751539 0.00182
NM_017617.5(NOTCH1):c.2124C>T (p.Tyr708=) rs376744729 0.00165
NM_017617.5(NOTCH1):c.263G>A (p.Ser88Asn) rs191357265 0.00156
NM_017617.5(NOTCH1):c.4056C>T (p.Cys1352=) rs200099319 0.00147
NM_017617.5(NOTCH1):c.2049G>A (p.Ala683=) rs61751553 0.00096
NM_017617.5(NOTCH1):c.368C>T (p.Thr123Met) rs187473846 0.00071
NM_017617.5(NOTCH1):c.5500C>T (p.Leu1834=) rs73668312 0.00070
NM_017617.5(NOTCH1):c.3115G>A (p.Gly1039Ser) rs200207651 0.00063
NM_017617.5(NOTCH1):c.4168C>A (p.Pro1390Thr) rs191645600 0.00061
NM_017617.5(NOTCH1):c.311A>G (p.Asn104Ser) rs199654211 0.00060
NM_017617.5(NOTCH1):c.3835C>T (p.Arg1279Cys) rs182330532 0.00058
NM_017617.5(NOTCH1):c.7606G>A (p.Val2536Ile) rs111627256 0.00057
NM_017617.5(NOTCH1):c.6836C>T (p.Ala2279Val) rs200370953 0.00056
NM_017617.5(NOTCH1):c.6108C>T (p.Ala2036=) rs369167693 0.00046
NM_017617.5(NOTCH1):c.1553C>T (p.Thr518Met) rs377535397 0.00044
NM_017617.5(NOTCH1):c.3644-4G>A rs376161552 0.00040
NM_017617.5(NOTCH1):c.4548C>T (p.Phe1516=) rs199740882 0.00029
NM_017617.5(NOTCH1):c.1100-8C>T rs545088400 0.00028
NM_017617.5(NOTCH1):c.2434G>A (p.Gly812Arg) rs201620755 0.00026
NM_017617.5(NOTCH1):c.1950C>T (p.Cys650=) rs147086700 0.00024
NM_017617.5(NOTCH1):c.5189C>T (p.Pro1730Leu) rs375897519 0.00024
NM_017617.5(NOTCH1):c.2970-9C>T rs568052902 0.00021
NM_017617.5(NOTCH1):c.3528C>T (p.His1176=) rs202133782 0.00020
NM_017617.5(NOTCH1):c.7298T>C (p.Phe2433Ser) rs201493851 0.00020
NM_017617.5(NOTCH1):c.1556-9C>T rs150834418 0.00017
NM_017617.5(NOTCH1):c.3553G>A (p.Asp1185Asn) rs548083258 0.00017
NM_017617.5(NOTCH1):c.1689C>T (p.Cys563=) rs760548976 0.00016
NM_017617.5(NOTCH1):c.3011C>T (p.Ser1004Leu) rs201163739 0.00016
NM_017617.5(NOTCH1):c.3288G>C (p.Val1096=) rs374944458 0.00016
NM_017617.5(NOTCH1):c.52G>A (p.Ala18Thr) rs754613772 0.00015
NM_017617.5(NOTCH1):c.6180+9G>A rs200371378 0.00015
NM_017617.5(NOTCH1):c.2354-5T>C rs371944522 0.00014
NM_017617.5(NOTCH1):c.631A>G (p.Thr211Ala) rs376902925 0.00014
NM_017617.5(NOTCH1):c.5273G>A (p.Arg1758His) rs373841359 0.00011
NM_017617.5(NOTCH1):c.1295C>T (p.Thr432Met) rs200562991 0.00010
NM_017617.5(NOTCH1):c.4096G>A (p.Gly1366Ser) rs778270588 0.00010
NM_017617.5(NOTCH1):c.6788G>A (p.Arg2263Gln) rs200521815 0.00010
NM_017617.5(NOTCH1):c.390G>A (p.Pro130=) rs61751559 0.00009
NM_017617.5(NOTCH1):c.4586+10C>T rs760225110 0.00009
NM_017617.5(NOTCH1):c.6120T>C (p.Asn2040=) rs201625763 0.00009
NM_017617.5(NOTCH1):c.3468C>T (p.Asn1156=) rs199793164 0.00007
NM_017617.5(NOTCH1):c.4506C>T (p.Asp1502=) rs751191827 0.00007
NM_017617.5(NOTCH1):c.4551C>T (p.Asp1517=) rs766737406 0.00007
NM_017617.5(NOTCH1):c.2108G>A (p.Arg703His) rs561126575 0.00006
NM_017617.5(NOTCH1):c.3374C>T (p.Ala1125Val) rs200871631 0.00006
NM_017617.5(NOTCH1):c.5718G>A (p.Ala1906=) rs369730620 0.00006
NM_017617.5(NOTCH1):c.4238G>A (p.Arg1413His) rs371068504 0.00005
NM_017617.5(NOTCH1):c.963C>T (p.Cys321=) rs201158068 0.00005
NM_017617.5(NOTCH1):c.*7C>T rs758237894 0.00004
NM_017617.5(NOTCH1):c.1869C>T (p.Asn623=) rs376726823 0.00004
NM_017617.5(NOTCH1):c.2576C>T (p.Thr859Met) rs199505287 0.00004
NM_017617.5(NOTCH1):c.428C>T (p.Pro143Leu) rs1228192276 0.00001
NM_017617.5(NOTCH1):c.1903+7G>T rs760116150
NM_017617.5(NOTCH1):c.2496G>T (p.Pro832=) rs61751551
NM_017617.5(NOTCH1):c.2558_2560del (p.Phe853del) rs779164170
NM_017617.5(NOTCH1):c.3332_3347del (p.Asp1111fs)
NM_017617.5(NOTCH1):c.5016C>T (p.Arg1672=) rs1251609154
NM_017617.5(NOTCH1):c.750C>A (p.Thr250=) rs375772590

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