ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.5502G>T (p.Ser1834=)

dbSNP: rs143115716
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001279772 SCV001698713 likely benign Cohen syndrome 2023-08-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003908494 SCV004719695 likely benign VPS13B-related disorder 2021-07-12 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. RCV001279772 SCV001466893 uncertain significance Cohen syndrome 2020-08-15 no assertion criteria provided clinical testing

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