ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.-9dup

dbSNP: rs2138617119
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002266481 SCV002548530 uncertain significance not specified 2022-05-13 criteria provided, single submitter clinical testing Variant summary: MED13L c.-9dupC is located in the untranslated mRNA region upstream of the initiation codon. The variant was absent in 180786 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.-9dupC in individuals affected with Intellectual Disability And Distinctive Facial Features With Or Without Cardiac Defects and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.

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