ClinVar Miner

Submissions for variant NM_001348323.3(TRIP12):c.3816+2T>A

dbSNP: rs2471479385
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV002280009 SCV002568124 pathogenic Clark-Baraitser syndrome 2022-05-10 criteria provided, single submitter clinical testing PVS1, PS2, PM2

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