ClinVar Miner

Submissions for variant NM_015378.4(VPS13D):c.3960C>T (p.Ser1320=)

gnomAD frequency: 0.00219  dbSNP: rs77854026
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000912416 SCV001057522 benign not provided 2025-01-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003913031 SCV004731578 likely benign VPS13D-related disorder 2019-07-10 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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