ClinVar Miner

Submissions for variant NM_015378.4(VPS13D):c.1103A>T (p.Asp368Val)

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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 RCV002602373 SCV003489678 likely benign not provided 2024-12-23 criteria provided, single submitter clinical testing
GeneDx RCV002602373 SCV004027908 uncertain significance not provided 2023-02-15 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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