ClinVar Miner

Submissions for variant NM_033305.3(VPS13A):c.6234C>T (p.Leu2078=)

gnomAD frequency: 0.00004  dbSNP: rs571822890
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 RCV000871772 SCV001013484 likely benign not provided 2024-03-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274098 SCV001457842 likely benign Chorea-acanthocytosis 2020-04-13 no assertion criteria provided clinical testing

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