ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5502_5503dup (p.Arg1835fs)

dbSNP: rs397509291
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Total submissions: 3
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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) RCV000257557 SCV000323880 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2016-10-18 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000257557 SCV000326341 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2015-10-02 criteria provided, single submitter clinical testing
Baylor Genetics RCV000257557 SCV004211774 likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2020-12-29 criteria provided, single submitter clinical testing

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