ClinVar Miner

Submissions for variant NM_000360.4(TH):c.1200+11C>T

gnomAD frequency: 0.00022  dbSNP: rs372851419
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002088486 SCV002390362 likely benign Autosomal recessive DOPA responsive dystonia 2025-01-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002088486 SCV002798161 likely benign Autosomal recessive DOPA responsive dystonia 2022-04-13 criteria provided, single submitter clinical testing

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