ClinVar Miner

Submissions for variant NM_001348323.3(TRIP12):c.4368dup (p.Asn1457fs)

dbSNP: rs2041642562
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197191 SCV001367827 pathogenic Clark-Baraitser syndrome 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2,PM6.

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