ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.3797G>T (p.Ser1266Ile)

dbSNP: rs2105123807
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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 RCV002244218 SCV002512599 uncertain significance Intellectual disability, autosomal dominant 1 2021-11-30 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderate, BP4 supporting

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