ClinVar Miner

Submissions for variant NM_015378.4(VPS13D):c.13015C>G (p.Pro4339Ala)

gnomAD frequency: 0.00387  dbSNP: rs145495867
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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 RCV000883488 SCV001026800 benign not provided 2025-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000883488 SCV004128529 likely benign not provided 2025-01-01 criteria provided, single submitter clinical testing VPS13D: PP2, BS1
Breakthrough Genomics, Breakthrough Genomics RCV000883488 SCV005282522 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003930598 SCV004739321 benign VPS13D-related disorder 2019-02-26 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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