ClinVar Miner

Submissions for variant NM_015378.4(VPS13D):c.613A>G (p.Ile205Val)

gnomAD frequency: 0.00232  dbSNP: rs61774897
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002164854 SCV002335628 benign not provided 2024-01-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002164854 SCV004128505 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing VPS13D: BP4, BS2
PreventionGenetics, part of Exact Sciences RCV003913533 SCV004735751 benign VPS13D-related disorder 2019-05-17 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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