Indigenome VS ClinVar IDs Relevant information available in ClinVar
Variant Identifiers ClinVar Name Variant Type Clinical Significance Phenotype Condition Review Status Variation/condition record
IndiGenomes: chr13:32319322:T>G
 
ClinVar:           chr13:32319322:CTT>C 		NM_000059.4(BRCA2):c.313_314del (p.Leu105fs) Deletion
Pathogenic Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002324400RCV002037898
IndiGenomes: chr13:32326118:G>T
 
ClinVar:           chr13:32326118:G>A 		NM_000059.4(BRCA2):c.443G>A (p.Cys148Tyr) SNV
Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Ovarian cancer		 Criteria Provided
Conflicting Classifications

5 SubmittersRCV001188487RCV002295334RCV002282474RCV003153938
IndiGenomes: chr13:32332383:C>G
 
ClinVar:           chr13:32332383:C>CA 		NM_000059.4(BRCA2):c.905_906insA (p.Ser303fs) Insertion
Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 Reviewed By Expert Panel

2 SubmittersRCV000257625
IndiGenomes: chr13:32332902:A>G
 
ClinVar:           chr13:32332902:A>T 		NM_000059.4(BRCA2):c.1424A>T (p.Glu475Val) SNV
Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV001806735RCV003158964
IndiGenomes: chr13:32333036:T>G
 
ClinVar:           chr13:32333036:T>G 		NM_000059.4(BRCA2):c.1558T>G (p.Phe520Val) SNV
Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications

10 SubmittersRCV000112935RCV001012153RCV001313921RCV001264457
IndiGenomes: chr13:32333141:C>CAAA
 
ClinVar:           chr13:32333141:C>A 		NM_000059.4(BRCA2):c.1663C>A (p.Pro555Thr) SNV
Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome Criteria Provided
Conflicting Classifications

3 SubmittersRCV000223032
IndiGenomes: chr13:32336777:G>T
 
ClinVar:           chr13:32336777:G>GA 		NM_000059.4(BRCA2):c.2424dup (p.Leu809fs) Duplication
Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 Criteria Provided
Single Submitter

1 SubmittersRCV002290393
IndiGenomes: chr13:32337156:GT>G
 
ClinVar:           chr13:32337156:G>GT 		NM_000059.4(BRCA2):c.2802dup (p.Asp935Ter) Duplication
Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 Criteria Provided
Single Submitter

1 SubmittersRCV003316951
IndiGenomes: chr13:32337263:G>T
 
ClinVar:           chr13:32337263:G>A 		NM_000059.4(BRCA2):c.2908G>A (p.Asp970Asn) SNV
Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Breast and/or ovarian cancer
Condition: not provided
8 conditions
BRCA2-related cancer predisposition		 Criteria Provided
Conflicting Classifications

13 SubmittersRCV000031387RCV000129877RCV000196636RCV000220683RCV000735533RCV000588181RCV000763884RCV004803013
IndiGenomes: chr13:32337291:T>C
 
ClinVar:           chr13:32337291:T>C 		NM_000059.4(BRCA2):c.2936T>C (p.Ile979Thr) SNV
Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV000216516RCV000689948
IndiGenomes: chr13:32338167:C>G
 
ClinVar:           chr13:32338167:C>G 		NM_000059.4(BRCA2):c.3812C>G (p.Ser1271Ter) SNV
Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Reviewed By Expert Panel

5 SubmittersRCV000256517RCV001182320RCV001859520RCV003475868
IndiGenomes: chr13:32338895:G>GA
 
ClinVar:           chr13:32338895:G>GCGAT 		NM_000059.4(BRCA2):c.4540_4541insCGAT (p.Glu1514fs) Insertion
Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 Reviewed By Expert Panel

2 SubmittersRCV000257166
IndiGenomes: chr13:32339274:A>C
 
ClinVar:           chr13:32339274:A>G 		NM_000059.4(BRCA2):c.4919A>G (p.His1640Arg) SNV
Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications

5 SubmittersRCV000583557RCV001223708RCV004586807
IndiGenomes: chr13:32339733:A>ATCAT
 
ClinVar:           chr13:32339733:A>ATT 		NM_000059.4(BRCA2):c.5379_5380insTT (p.Val1794fs) Insertion
Pathogenic Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel

3 SubmittersRCV000239112RCV000661729RCV003584583
IndiGenomes: chr13:32339735:G>A
 
ClinVar:           chr13:32339735:TG>T 		NM_000059.4(BRCA2):c.5380del (p.Asn1793_Val1794insTer) Deletion
Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 Reviewed By Expert Panel

1 SubmittersRCV000257237
IndiGenomes: chr13:32339827:T>C
 
ClinVar:           chr13:32339827:T>TA 		NM_000059.4(BRCA2):c.5472_5473insA (p.Ala1825fs) Insertion
Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel

3 SubmittersRCV000257807RCV000496455
IndiGenomes: chr13:32340242:G>A
 
ClinVar:           chr13:32340242:G>A 		NM_000059.4(BRCA2):c.5887G>A (p.Gly1963Arg) SNV
Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV001024640RCV002552387
IndiGenomes: chr13:32340840:A>G
 
ClinVar:           chr13:32340840:AAC>GACA 		NM_000059.4(BRCA2):c.6485_6487delinsGACA (p.Lys2162fs) Indel
Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003293442
IndiGenomes: chr13:32341182:C>A
 
ClinVar:           chr13:32341182:C>CCCTT 		NM_000059.4(BRCA2):c.6828_6831dup (p.Ile2278fs) Duplication
Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002369635
IndiGenomes: chr13:32356441:T>C
 
ClinVar:           chr13:32356441:T>G 		NM_000059.4(BRCA2):c.7449T>G (p.Ser2483Arg) SNV
Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV000690621RCV002386189RCV004569295
IndiGenomes: chr13:32356472:C>A
 
ClinVar:           chr13:32356472:C>T 		NM_000059.4(BRCA2):c.7480C>T (p.Arg2494Ter) SNV
Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Carcinoma of pancreas
8 conditions
BRCA2-related cancer predisposition
Gastric cancer
Familial cancer of breast
BRCA2-related disorder		 Reviewed By Expert Panel

36 SubmittersRCV000031681RCV000045227RCV000131084RCV000225750RCV001391218RCV002477038RCV004803066RCV003162280RCV003460528RCV004732576
IndiGenomes: chr13:32363187:C>T
 
ClinVar:           chr13:32363187:C>T 		NM_000059.4(BRCA2):c.7985C>T (p.Thr2662Met) SNV
Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
not specified
BRCA2-related cancer predisposition
Hereditary cancer		 Criteria Provided
Conflicting Classifications

11 SubmittersRCV000163213RCV000588790RCV000989069RCV001081809RCV001175366RCV005365064RCV004700499
IndiGenomes: chr13:32363204:A>G
 
ClinVar:           chr13:32363204:A>T 		NM_000059.4(BRCA2):c.8002A>T (p.Arg2668Ter) SNV
Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided		 Reviewed By Expert Panel

11 SubmittersRCV000113855RCV000569144RCV000585730RCV000503440RCV001310177RCV000657634
IndiGenomes: chr13:32370985:C>T
 
ClinVar:           chr13:32370985:C>A 		NM_000059.4(BRCA2):c.8517C>A (p.Tyr2839Ter) SNV
Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition		 Reviewed By Expert Panel

5 SubmittersRCV000256702RCV001175897RCV005365217
IndiGenomes: chr13:32379308:T>C
 
ClinVar:           chr13:32379308:T>A 		NM_000059.4(BRCA2):c.8755-9T>A SNV
Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV000031767RCV000811752RCV001018281
IndiGenomes: chr13:32379916:A>G
 
ClinVar:           chr13:32379916:A>G 		NM_000059.4(BRCA2):c.9117+3A>G SNV
Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV000520876RCV002376957
IndiGenomes: chr13:32396952:G>A
 
ClinVar:           chr13:32396952:GCAAATGATCCC>AAGTGGTCCACCCCAACTA 		NM_000059.4(BRCA2):c.9556_9567delinsAAGTGGTCCACCCCAACTA (p.Ala3186fs) Indel
Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV000571613