ClinVar Miner

Submissions for variant NM_033305.3(VPS13A):c.2089A>G (p.Asn697Asp)

gnomAD frequency: 0.00001  dbSNP: rs549929120
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
Fulgent Genetics, Fulgent Genetics RCV001277441 SCV002789538 uncertain significance Chorea-acanthocytosis 2021-08-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277441 SCV001464392 uncertain significance Chorea-acanthocytosis 2020-04-09 no assertion criteria provided clinical testing

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