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: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000873490 SCV001015486 likely benign Cohen syndrome 2025-01-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004707446 SCV005223973 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV000873490 SCV001461443 uncertain significance Cohen syndrome 2020-01-24 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003975454 SCV004793357 likely benign VPS13B-related disorder 2021-12-29 no assertion criteria provided 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).

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