ClinVar Miner

Submissions for variant NM_001039469.3(MARK2):c.211C>T (p.Arg71Ter)

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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 RCV004593554 SCV005081699 likely pathogenic Autism spectrum disorder 2024-07-03 no assertion criteria provided clinical testing PVS1+PM2_Supporting

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