ClinVar Miner

Submissions for variant NM_000360.4(TH):c.126C>A (p.Ile42=)

gnomAD frequency: 0.00010  dbSNP: rs755664117
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001273890 SCV001009687 likely benign Autosomal recessive DOPA responsive dystonia 2024-01-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273890 SCV001457477 uncertain significance Autosomal recessive DOPA responsive dystonia 2020-04-12 no assertion criteria provided clinical testing

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