ClinVar Miner

Submissions for variant NM_033305.3(VPS13A):c.3075C>T (p.Ser1025=)

gnomAD frequency: 0.00002  dbSNP: rs916979346
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000873383 SCV001015363 likely benign not provided 2024-08-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001271525 SCV002804357 likely benign Chorea-acanthocytosis 2021-07-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271525 SCV001452756 uncertain significance Chorea-acanthocytosis 2020-01-24 no assertion criteria provided clinical testing

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