ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.7434A>G (p.Ala2478=)

gnomAD frequency: 0.00015  dbSNP: rs373550277
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000886491 SCV001030000 likely benign Cohen syndrome 2024-01-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003910486 SCV004720993 likely benign VPS13B-related disorder 2021-05-26 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. RCV000886491 SCV001460398 likely benign Cohen syndrome 2020-06-14 no assertion criteria provided clinical testing

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