ClinVar Miner

Submissions for variant NM_000360.4(TH):c.1032C>T (p.Phe344=)

dbSNP: rs763198914
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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 RCV002207552 SCV002362513 likely benign Autosomal recessive DOPA responsive dystonia 2025-01-23 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005238224 SCV005886553 likely benign not specified 2025-02-05 criteria provided, single submitter clinical testing

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