ClinVar Miner

Submissions for variant NM_001348323.3(TRIP12):c.1012C>T (p.Gln338Ter)

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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 RCV003327354 SCV004034153 pathogenic Clark-Baraitser syndrome 2023-07-18 criteria provided, single submitter clinical testing

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