ClinVar Miner

Submissions for variant NM_000360.4(TH):c.90+26G>A

dbSNP: rs191356744
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665663 SCV000789821 likely benign Autosomal recessive DOPA responsive dystonia 2017-02-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000665663 SCV004247366 likely benign Autosomal recessive DOPA responsive dystonia 2024-07-18 criteria provided, single submitter clinical testing

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