ClinVar Miner

Submissions for variant NM_000360.4(TH):c.576+8G>T

dbSNP: rs372753775
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001277077 SCV001002157 likely benign Autosomal recessive DOPA responsive dystonia 2025-01-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277077 SCV001463818 likely benign Autosomal recessive DOPA responsive dystonia 2020-09-16 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003938214 SCV004751652 likely benign TH-related disorder 2019-03-21 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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