ClinVar Miner

Submissions for variant NM_000161.3(GCH1):c.275T>C (p.Leu92Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003142379 SCV003807954 uncertain significance Dystonia 5 2022-03-08 criteria provided, single submitter clinical testing ACMG classification criteria: PM2, PP3 supporting

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