ClinVar Miner

Submissions for variant NM_000360.4(TH):c.1128C>T (p.Phe376=)

gnomAD frequency: 0.00001  dbSNP: rs769329337
Minimum review status: Collection method:
Minimum conflict level:
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 RCV000871474 SCV001013143 likely benign Autosomal recessive DOPA responsive dystonia 2024-03-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV000871474 SCV002093468 likely benign Autosomal recessive DOPA responsive dystonia 2020-10-24 no assertion criteria provided clinical testing

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