ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1623T>C (p.Asn541=)

dbSNP: rs786203897
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000167401 SCV000218256 likely benign Hereditary cancer-predisposing syndrome 2014-12-30 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.
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316063 SCV004016928 likely benign Familial cancer of breast 2023-07-07 criteria provided, single submitter clinical testing

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