ClinVar Miner

Submissions for variant NM_000360.4(TH):c.1188C>T (p.Tyr396=)

dbSNP: rs375428556
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 RCV001435319 SCV001638138 likely benign Autosomal recessive DOPA responsive dystonia 2025-01-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001435319 SCV002093446 likely benign Autosomal recessive DOPA responsive dystonia 2020-04-22 no assertion criteria provided clinical testing

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