ClinVar Miner

Submissions for variant NM_000360.4(TH):c.459G>A (p.Glu153=)

gnomAD frequency: 0.00003  dbSNP: rs373986982
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000865848 SCV001006872 likely benign Autosomal recessive DOPA responsive dystonia 2024-12-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003424393 SCV004128967 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing TH: BP4, BP7

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