ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.3603T>C (p.Ile1201=)

dbSNP: rs1239998940
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001020699 SCV001182211 likely benign Hereditary cancer-predisposing syndrome 2018-07-05 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002068996 SCV002395845 likely benign Familial cancer of breast; Fanconi anemia complementation group J 2021-03-29 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004789350 SCV005403023 benign Familial cancer of breast 2024-09-10 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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