ClinVar Miner

Submissions for variant NM_001348323.3(TRIP12):c.1160G>A (p.Arg387Lys)

dbSNP: rs2054983988
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV001730064 SCV001976868 uncertain significance Clark-Baraitser syndrome 2021-10-06 criteria provided, single submitter clinical testing PP2, PM2, PP3

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