ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2091T>C (p.Ser697=)

dbSNP: rs2077532892
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001186127 SCV001352471 likely benign Hereditary cancer-predisposing syndrome 2019-05-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002560881 SCV003341340 likely benign Familial cancer of breast; Fanconi anemia complementation group J 2022-10-18 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV001194766 SCV001364549 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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