ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.1770G>A (p.Ala590=)

gnomAD frequency: 0.00003  dbSNP: rs760564848
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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) RCV000174583 SCV000225903 uncertain significance not provided 2015-04-28 criteria provided, single submitter clinical testing
Invitae RCV001084912 SCV001121630 likely benign Cohen syndrome 2024-01-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002399628 SCV002711836 likely benign Inborn genetic diseases 2018-03-12 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 RCV003895183 SCV004712991 likely benign VPS13B-related disorder 2022-08-02 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. RCV001084912 SCV001456245 likely benign Cohen syndrome 2020-06-05 no assertion criteria provided clinical testing

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