ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.7950C>T (p.His2650=)

gnomAD frequency: 0.00009  dbSNP: rs61754503
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081918 SCV000113853 uncertain significance not provided 2013-08-08 criteria provided, single submitter clinical testing
Counsyl RCV000671744 SCV000796757 likely benign Cohen syndrome 2017-12-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000671744 SCV001659739 likely benign Cohen syndrome 2024-10-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002415580 SCV002679840 likely benign Inborn genetic diseases 2017-06-15 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.

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