ClinVar Miner

Submissions for variant NM_001348323.3(TRIP12):c.5030C>T (p.Ala1677Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg RCV003384299 SCV004098683 likely pathogenic Clark-Baraitser syndrome 2023-10-25 criteria provided, single submitter clinical testing This variant has been identified by standard clinical testing. de novo Selected ACMG criteria: Likely pathogenic (II):PP3;PP2;PM2;PS2

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