ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.10240T>C (p.Leu3414=)

gnomAD frequency: 0.00073  dbSNP: rs145279584
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724885 SCV000231390 uncertain significance not provided 2015-06-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000179184 SCV000597897 likely benign not specified 2016-08-05 criteria provided, single submitter clinical testing
Invitae RCV001086099 SCV000755408 likely benign Cohen syndrome 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002314657 SCV000848656 likely benign Inborn genetic diseases 2017-01-18 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.
Natera, Inc. RCV001086099 SCV001460999 likely benign Cohen syndrome 2020-09-16 no assertion criteria provided clinical testing

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