ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1068_1077del (p.Gln356fs)

dbSNP: rs397508830
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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) RCV000256937 SCV000323272 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 RCV000256937 SCV000324945 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2015-10-02 criteria provided, single submitter clinical testing
CZECANCA consortium RCV001270961 SCV001451765 pathogenic Breast and/or ovarian cancer 2019-06-11 no assertion criteria provided clinical testing

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