ClinVar Miner

Submissions for variant NM_018105.3(THAP1):c.14G>A (p.Cys5Tyr)

dbSNP: rs1586459413
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
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000995898 SCV001150289 likely pathogenic Torsion dystonia 6 2018-06-11 criteria provided, single submitter clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV000995898 SCV004807464 uncertain significance Torsion dystonia 6 2024-03-26 criteria provided, single submitter clinical testing

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