ClinVar Miner

Submissions for variant NM_000360.4(TH):c.1476G>A (p.Ala492=)

gnomAD frequency: 0.00007  dbSNP: rs146945950
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 RCV001275011 SCV001007311 likely benign Autosomal recessive DOPA responsive dystonia 2024-11-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275011 SCV001459698 likely benign Autosomal recessive DOPA responsive dystonia 2020-09-16 no assertion criteria provided clinical testing

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