ClinVar Miner

Submissions for variant NM_015378.4(VPS13D):c.11882-8T>C

gnomAD frequency: 0.00201  dbSNP: rs144848289
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001726738 SCV001961081 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing VPS13D: BP4, BS2
Invitae RCV001726738 SCV002380090 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003931294 SCV004747292 likely benign VPS13D-related disorder 2019-04-26 criteria provided, single submitter 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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