ClinVar Miner

Submissions for variant NM_020134.4(DPYSL5):c.395T>C (p.Val132Ala)

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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 RCV003142365 SCV003807934 uncertain significance Ritscher-Schinzel syndrome 4 2023-02-03 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderated

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