ClinVar Miner

Submissions for variant NM_001348323.3(TRIP12):c.5259_5276delinsAAATGATATG (p.Leu1754fs)

dbSNP: rs2154245501
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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 RCV001814767 SCV002061575 likely pathogenic Clark-Baraitser syndrome 2021-09-29 criteria provided, single submitter clinical testing PVS1, PM2

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