ClinVar Miner

Submissions for variant NR_104387.1(TAF1):n.5894C>T

gnomAD frequency: 0.00009  dbSNP: rs397509359
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000020067 SCV000040365 pathologic X-linked dystonia-parkinsonism 2012-10-18 no assertion criteria provided curation Converted during submission to Pathogenic.

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