ClinVar Miner

Submissions for variant NM_033305.3(VPS13A):c.723T>C (p.Asn241=)

gnomAD frequency: 0.00005  dbSNP: rs749945516
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
Invitae RCV000868049 SCV001009335 likely benign not provided 2024-01-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276361 SCV001462573 likely benign Chorea-acanthocytosis 2020-09-16 no assertion criteria provided clinical testing

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