ClinVar Miner

Submissions for variant NM_000103.4(CYP19A1):c.859-9A>G

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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 RCV003140636 SCV003807597 uncertain significance Aromatase deficiency 2022-07-29 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderated, PP3 supporting

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