ClinVar Miner

Submissions for variant NM_001352027.3(PHF21A):c.619C>T (p.Gln207Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV002795918 SCV003035424 pathogenic Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures 2022-06-24 criteria provided, single submitter clinical testing

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