ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.8448T>C (p.Ile2816=)

gnomAD frequency: 0.00003  dbSNP: rs763701016
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000873490 SCV001015486 likely benign Cohen syndrome 2024-01-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003975454 SCV004793357 likely benign VPS13B-related disorder 2021-12-29 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. RCV000873490 SCV001461443 uncertain significance Cohen syndrome 2020-01-24 no assertion criteria provided clinical testing

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