ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.9645C>T (p.Leu3215=)

gnomAD frequency: 0.00006  dbSNP: rs373968888
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000512808 SCV000231327 uncertain significance not provided 2017-01-10 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000194848 SCV000249430 likely benign not specified 2019-02-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000512808 SCV000609319 uncertain significance not provided 2017-05-31 criteria provided, single submitter clinical testing
Invitae RCV001079377 SCV001091768 likely benign Cohen syndrome 2023-12-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002372100 SCV002692677 likely benign Inborn genetic diseases 2018-08-04 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. RCV001079377 SCV001461453 likely benign Cohen syndrome 2020-04-15 no assertion criteria provided clinical testing

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