ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4521G>A (p.Arg1507=)

dbSNP: rs1435385135
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001022635 SCV001184394 likely benign Hereditary cancer-predisposing syndrome 2018-12-06 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001175601 SCV001339248 likely benign not specified 2020-03-13 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001022635 SCV001352295 likely benign Hereditary cancer-predisposing syndrome 2019-06-05 criteria provided, single submitter clinical testing
Invitae RCV001467989 SCV001672024 likely benign Hereditary breast ovarian cancer syndrome 2021-02-06 criteria provided, single submitter clinical testing
GeneDx RCV000525983 SCV001792288 likely benign not provided 2020-01-30 criteria provided, single submitter clinical testing

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