ClinVar Miner

Submissions for variant NM_177559.3(CSNK2A1):c.151_152delinsCC (p.Ser51Pro)

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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 RCV002776540 SCV003035369 likely pathogenic Okur-Chung neurodevelopmental syndrome 2022-11-15 criteria provided, single submitter clinical testing

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