ClinVar Miner

Submissions for variant NM_000360.4(TH):c.1227T>C (p.Ile409=)

dbSNP: rs546226132
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 RCV001271309 SCV001008324 likely benign Autosomal recessive DOPA responsive dystonia 2024-04-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271309 SCV001452390 uncertain significance Autosomal recessive DOPA responsive dystonia 2020-03-17 no assertion criteria provided clinical testing

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