ClinVar Miner

Submissions for variant NM_001202.6(BMP4):c.734G>A (p.Arg245Gln)

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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 RCV003225780 SCV003807082 uncertain significance Microphthalmia with brain and digit anomalies 2022-12-16 criteria provided, single submitter clinical testing ACMG classification criteria: BP4 supporting

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