ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2127C>G (p.Leu709=)

dbSNP: rs1060504325
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001397680 SCV001599439 likely benign Familial cancer of breast; Fanconi anemia complementation group J 2023-08-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV004033448 SCV005029229 likely benign Hereditary cancer-predisposing syndrome 2023-10-12 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.
Leiden Open Variation Database RCV001194770 SCV001364553 uncertain significance not provided 2019-08-13 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Yukihide Momozawa.

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