ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.588C>T (p.Asn196=)

dbSNP: rs758851721
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000531200 SCV000633702 likely benign Familial cancer of breast; Fanconi anemia complementation group J 2024-10-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV001024642 SCV001186691 likely benign Hereditary cancer-predisposing syndrome 2015-10-03 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.
Color Diagnostics, LLC DBA Color Health RCV001024642 SCV001345799 likely benign Hereditary cancer-predisposing syndrome 2019-06-19 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004791539 SCV005407559 benign Familial cancer of breast 2024-08-21 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.
Leiden Open Variation Database RCV001194703 SCV001364463 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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