ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.2124T>C (p.Ala708=)

gnomAD frequency: 0.00023  dbSNP: rs201650333
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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) RCV000081884 SCV000113819 uncertain significance not provided 2012-11-02 criteria provided, single submitter clinical testing
Counsyl RCV000671667 SCV000796662 likely benign Cohen syndrome 2017-12-28 criteria provided, single submitter clinical testing
Invitae RCV000671667 SCV001096843 likely benign Cohen syndrome 2024-01-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002415579 SCV002726076 likely benign Inborn genetic diseases 2017-09-26 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.
PreventionGenetics, part of Exact Sciences RCV003915093 SCV004734869 likely benign VPS13B-related disorder 2021-08-11 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV000671667 SCV001456249 uncertain significance Cohen syndrome 2020-01-24 no assertion criteria provided clinical testing

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