ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5464_5465insT (p.His1822fs)

dbSNP: rs273902769
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000112658 SCV000300262 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Breast Cancer Information Core (BIC) (BRCA1) RCV000112658 SCV000145520 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2010-08-13 no assertion criteria provided clinical testing

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