ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1854del (p.Arg618fs)

dbSNP: rs397507193
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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) RCV000031012 SCV000299657 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.
Sharing Clinical Reports Project (SCRP) RCV000031012 SCV000053605 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2011-08-17 no assertion criteria provided clinical testing

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