ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1194C>T (p.Ile398=)

gnomAD frequency: 0.00001  dbSNP: rs757427498
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162546 SCV000212954 likely benign Hereditary cancer-predisposing syndrome 2017-09-26 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.
GeneDx RCV001721022 SCV000515450 likely benign not provided 2018-08-13 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000162546 SCV000684117 likely benign Hereditary cancer-predisposing syndrome 2016-12-09 criteria provided, single submitter clinical testing
Invitae RCV000636229 SCV000757661 likely benign Familial cancer of breast; Fanconi anemia complementation group J 2024-01-10 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV000421169 SCV001364514 benign not specified 2019-08-13 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Yukihide Momozawa.

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