ClinVar Miner

Submissions for variant NM_015378.4(VPS13D):c.5235G>A (p.Ala1745=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002943201 SCV003274284 benign not provided 2022-08-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002943201 SCV004128516 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing VPS13D: BP4, BP7

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