ClinVar Miner

Submissions for variant NM_015378.4(VPS13D):c.10421A>T (p.Lys3474Met)

gnomAD frequency: 0.00182  dbSNP: rs145226038
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001171753 SCV001334593 likely benign not provided 2020-03-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001171753 SCV003265351 likely benign not provided 2025-01-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001171753 SCV005259954 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003928772 SCV004743422 likely benign VPS13D-related disorder 2022-04-06 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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