ClinVar Miner

Submissions for variant NM_000360.4(TH):c.1052T>C (p.Ile351Thr)

dbSNP: rs1554922725
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668836 SCV000793502 uncertain significance Autosomal recessive DOPA responsive dystonia 2017-08-17 criteria provided, single submitter clinical testing
Baylor Genetics RCV000668836 SCV004203847 pathogenic Autosomal recessive DOPA responsive dystonia 2023-12-27 criteria provided, single submitter clinical testing

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