ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1329del (p.Asn444fs) (rs869320781)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000508565 SCV000602822 pathogenic not specified 2016-11-16 criteria provided, single submitter clinical testing
Color RCV000774910 SCV000908934 pathogenic Hereditary cancer-predisposing syndrome 2017-09-29 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000211012 SCV000784028 pathogenic Breast-ovarian cancer, familial 2 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Michigan Medical Genetics Laboratories,University of Michigan RCV000211012 SCV000195959 pathogenic Breast-ovarian cancer, familial 2 2014-11-03 criteria provided, single submitter clinical testing

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