ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.711T>C (p.Arg237=)

gnomAD frequency: 0.00047  dbSNP: rs140808736
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002313572 SCV000848673 likely benign Inborn genetic diseases 2017-01-06 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000873404 SCV001015390 likely benign Cohen syndrome 2025-01-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003432755 SCV004158245 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing VPS13B: BP4, BP7

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