ClinVar Miner

Submissions for variant NM_015378.4(VPS13D):c.8647C>T (p.Arg2883Cys)

gnomAD frequency: 0.00505  dbSNP: rs143194636
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002092069 SCV002321331 benign not provided 2024-01-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002092069 SCV004128523 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing VPS13D: BS2
PreventionGenetics, part of Exact Sciences RCV003978480 SCV004798992 benign VPS13D-related disorder 2019-09-19 criteria provided, single submitter 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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