ClinVar Miner

Submissions for variant NM_001904.4(CTNNB1):c.2140C>T (p.Pro714Ser)

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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 RCV003225845 SCV003807827 uncertain significance Exudative vitreoretinopathy 7 2023-01-13 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderated, PP2 supporting, BP4 supporting

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