ClinVar Miner

Submissions for variant NM_015425.6(POLR1A):c.1612-3dup

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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 RCV003225888 SCV003806805 uncertain significance Acrofacial dysostosis Cincinnati type 2023-01-27 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 supporting

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