ClinVar Miner

Submissions for variant NM_003588.3(CUL4B):c.1162C>T (p.Arg388Ter) (rs121434616)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000415116 SCV000492911 pathogenic Global developmental delay; Seizures; Short stature; Abnormal facial shape; Intellectual disability 2014-11-29 criteria provided, single submitter clinical testing
OMIM RCV000012092 SCV000032326 pathogenic Syndromic X-linked mental retardation, Cabezas type 2007-03-01 no assertion criteria provided literature only

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