ClinVar Miner

Submissions for variant NM_001348323.3(TRIP12):c.5452_5453delinsAAACAAATTGTAAATTGTACCA (p.Pro1818fs)

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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 RCV002814352 SCV003035391 pathogenic Clark-Baraitser syndrome 2022-12-20 criteria provided, single submitter clinical testing

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