ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.2572C>T (p.Gln858Ter) (rs397508983)

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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) RCV000257400 SCV000323482 pathogenic Breast-ovarian cancer, familial 1 2016-10-18 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Laboratory of Molecular Diagnosis of Cancer,West China Hospital, Sichuan University RCV000240752 SCV000265859 pathogenic Neoplasm of the breast 2015-11-01 criteria provided, single submitter research
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000257400 SCV000325400 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing

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