ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.450T>C (p.Asn150=)

gnomAD frequency: 0.00003  dbSNP: rs746257136
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001447443 SCV001650508 likely benign Cohen syndrome 2024-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003900538 SCV004709371 likely benign VPS13B-related disorder 2022-08-31 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. RCV001447443 SCV002079433 likely benign Cohen syndrome 2021-09-17 no assertion criteria provided clinical testing

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