ClinVar Miner

Submissions for variant NM_000360.4(TH):c.848C>T (p.Thr283Met)

gnomAD frequency: 0.00001  dbSNP: rs121917764
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000013123 SCV000800506 uncertain significance Autosomal recessive DOPA responsive dystonia 2017-03-10 criteria provided, single submitter clinical testing
OMIM RCV000013123 SCV000033370 pathogenic Autosomal recessive DOPA responsive dystonia 2000-01-01 no assertion criteria provided literature only

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