ClinVar Miner

Submissions for variant NM_001039469.3(MARK2):c.2255T>C (p.Val752Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Medical Genetics, Capital Institute of Pediatrics RCV004593571 SCV005081718 likely pathogenic Autism spectrum disorder 2024-07-03 no assertion criteria provided research PM2_Supporting+PS2

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