ClinVar Miner

Submissions for variant NM_000360.4(TH):c.447C>A (p.Arg149=)

gnomAD frequency: 0.00001  dbSNP: rs1288293766
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000994545 SCV001148144 uncertain significance not provided 2016-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001489255 SCV001693793 likely benign Autosomal recessive DOPA responsive dystonia 2023-06-29 criteria provided, single submitter clinical testing

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