ClinVar Miner

Submissions for variant NM_000360.4(TH):c.585G>A (p.Ser195=)

gnomAD frequency: 0.00016  dbSNP: rs376615793
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000764963 SCV000834907 likely benign Autosomal recessive DOPA responsive dystonia 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764963 SCV000896139 uncertain significance Autosomal recessive DOPA responsive dystonia 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV001592907 SCV001826318 likely benign not provided 2020-03-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV000764963 SCV001452399 uncertain significance Autosomal recessive DOPA responsive dystonia 2020-04-12 no assertion criteria provided clinical testing

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