ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3576T>C (p.Pro1192=)

gnomAD frequency: 0.00001  dbSNP: rs766447664
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000474839 SCV000560234 likely benign Hereditary breast ovarian cancer syndrome 2023-12-06 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000580379 SCV000683113 likely benign Hereditary cancer-predisposing syndrome 2016-06-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000580379 SCV002613275 likely benign Hereditary cancer-predisposing syndrome 2021-02-28 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003323557 SCV004029053 likely benign not specified 2023-07-02 criteria provided, single submitter clinical testing

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