ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2130T>G (p.Ser710=)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003793499 SCV004581128 likely benign Familial cancer of breast; Fanconi anemia complementation group J 2023-07-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV004366589 SCV005029256 likely benign Hereditary cancer-predisposing syndrome 2023-10-29 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.
Myriad Genetics, Inc. RCV004787022 SCV005407029 benign Familial cancer of breast 2024-09-03 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.

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