ClinVar Miner

Submissions for variant NM_000360.4(TH):c.240C>T (p.Ala80=)

gnomAD frequency: 0.00007  dbSNP: rs371658705
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 RCV001463989 SCV001667948 likely benign Autosomal recessive DOPA responsive dystonia 2024-11-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001463989 SCV002089649 likely benign Autosomal recessive DOPA responsive dystonia 2021-08-24 no assertion criteria provided clinical testing

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