ClinVar Miner

Submissions for variant NM_033305.3(VPS13A):c.8356A>C (p.Arg2786=)

gnomAD frequency: 0.00001  dbSNP: rs752608628
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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 RCV000868662 SCV001010020 likely benign not provided 2024-11-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001278781 SCV002807341 likely benign Chorea-acanthocytosis 2021-07-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278781 SCV001465813 uncertain significance Chorea-acanthocytosis 2020-06-24 no assertion criteria provided clinical testing

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