ClinVar Miner

Submissions for variant NM_015378.4(VPS13D):c.9024T>C (p.Ile3008=)

gnomAD frequency: 0.01391  dbSNP: rs41279460
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001687718 SCV001909309 benign not provided 2021-05-06 criteria provided, single submitter clinical testing
Invitae RCV001687718 SCV002397438 benign not provided 2024-01-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001687718 SCV002821001 benign not provided 2024-04-01 criteria provided, single submitter clinical testing VPS13D: BP4, BP7, BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003975974 SCV004795779 likely benign VPS13D-related disorder 2019-03-18 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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