ClinVar Miner

Submissions for variant NM_152424.4(AMER1):c.3369C>G (p.Ser1123Arg)

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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 RCV003225882 SCV003806752 uncertain significance Osteopathia striata with cranial sclerosis 2022-11-12 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderated, BP4 supporting

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