ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.10744A>G (p.Ile3582Val)

gnomAD frequency: 0.00215  dbSNP: rs145547375
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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) RCV000081870 SCV000113805 uncertain significance not provided 2013-10-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311677 SCV000846865 benign Inborn genetic diseases 2016-06-21 criteria provided, single submitter clinical testing This alteration is classified as 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.
Invitae RCV001081615 SCV001018514 likely benign Cohen syndrome 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001081615 SCV001716357 likely benign Cohen syndrome 2021-05-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003974982 SCV004797340 likely benign VPS13B-related disorder 2019-05-01 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. RCV001081615 SCV001454469 likely benign Cohen syndrome 2020-01-06 no assertion criteria provided clinical testing

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