ClinVar Miner

Submissions for variant NM_000360.4(TH):c.474C>T (p.Pro158=)

gnomAD frequency: 0.00001  dbSNP: rs531554933
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 RCV001271317 SCV001009734 likely benign Autosomal recessive DOPA responsive dystonia 2025-01-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271317 SCV001452401 uncertain significance Autosomal recessive DOPA responsive dystonia 2020-03-10 no assertion criteria provided clinical testing

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