ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2936G>T (p.Arg979Leu)

dbSNP: rs80356985
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985395 SCV001133541 uncertain significance not provided 2019-02-12 criteria provided, single submitter clinical testing
University of Washington Department of Laboratory Medicine, University of Washington RCV003158258 SCV003849237 likely benign Hereditary cancer-predisposing syndrome 2023-03-23 criteria provided, single submitter curation Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).
Invitae RCV003645119 SCV004378099 likely benign Hereditary breast ovarian cancer syndrome 2023-06-22 criteria provided, single submitter clinical testing

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