ClinVar Miner

Submissions for variant NM_000360.4(TH):c.729C>T (p.Tyr243=)

gnomAD frequency: 0.00002  dbSNP: rs878855308
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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 RCV000227660 SCV000291899 likely benign Autosomal recessive DOPA responsive dystonia 2024-06-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001310943 SCV001500938 likely benign not provided 2020-07-01 criteria provided, single submitter clinical testing

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