ClinVar Miner

Submissions for variant NM_000360.4(TH):c.487+14C>G

gnomAD frequency: 0.00001  dbSNP: rs1298714018
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002079101 SCV002428352 likely benign Autosomal recessive DOPA responsive dystonia 2024-12-02 criteria provided, single submitter clinical testing

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