ClinVar Miner

Submissions for variant NM_033305.3(VPS13A):c.4626A>G (p.Glu1542=)

gnomAD frequency: 0.00004  dbSNP: rs763602189
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000865868 SCV001006894 likely benign not provided 2024-03-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274085 SCV001457829 likely benign Chorea-acanthocytosis 2020-04-13 no assertion criteria provided clinical testing

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