ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4146C>A (p.Cys1382Ter)

dbSNP: rs1057517574
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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) RCV000410852 SCV000783642 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Counsyl RCV000410852 SCV000488886 likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2016-07-12 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000508625 SCV000605866 likely pathogenic not provided 2016-11-30 criteria provided, single submitter clinical testing

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