ClinVar Miner

Submissions for variant NM_015378.4(VPS13D):c.2859G>A (p.Gln953=)

gnomAD frequency: 0.00503  dbSNP: rs139222925
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 RCV000959851 SCV001106788 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000959851 SCV002821000 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing VPS13D: BP4, BS2

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