ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1950A>T (p.Ile650=)

gnomAD frequency: 0.00001  dbSNP: rs1060504579
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001078917 SCV000560281 likely benign Hereditary breast ovarian cancer syndrome 2023-10-10 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000775724 SCV000910145 likely benign Hereditary cancer-predisposing syndrome 2018-04-10 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000460389 SCV001133506 likely benign not provided 2019-01-24 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001194407 SCV001363933 likely benign not specified 2019-08-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000775724 SCV002718261 likely benign Hereditary cancer-predisposing syndrome 2022-09-19 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.

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