ClinVar Miner

Submissions for variant NM_015378.4(VPS13D):c.6303T>G (p.His2101Gln)

gnomAD frequency: 0.00066  dbSNP: rs143933696
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002168383 SCV002423342 likely benign not provided 2024-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002168383 SCV004009736 uncertain significance not provided 2023-05-01 criteria provided, single submitter clinical testing VPS13D: PM2, BP4

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