ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1560A>G (p.Lys520=)

dbSNP: rs1555591570
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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 RCV000506218 SCV000600256 uncertain significance not specified 2016-11-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV001012181 SCV001172604 likely benign Hereditary cancer-predisposing syndrome 2018-12-13 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV002056896 SCV002495260 likely benign Hereditary breast ovarian cancer syndrome 2021-07-03 criteria provided, single submitter clinical testing

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