ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8755-272A>G

gnomAD frequency: 0.09303  dbSNP: rs4942485
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Total submissions: 7
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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) RCV000191793 SCV000245214 benign Breast-ovarian cancer, familial, susceptibility to, 2 2015-01-12 reviewed by expert panel curation Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.0507 (Asian), 0.1346 (European), derived from 1000 genomes (2012-04-30).
PreventionGenetics, part of Exact Sciences RCV000248575 SCV000301779 benign not specified 2016-01-26 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000248575 SCV000602801 benign not specified 2016-10-12 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000579479 SCV000683996 benign Hereditary cancer-predisposing syndrome 2014-12-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001514545 SCV001722411 benign Hereditary breast ovarian cancer syndrome 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001721244 SCV001949500 benign not provided 2018-07-09 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22513257)
Breakthrough Genomics, Breakthrough Genomics RCV001721244 SCV005236545 benign not provided criteria provided, single submitter not provided

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