ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.4298G>A (p.Gly1433Glu)

dbSNP: rs2137286575
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001837688 SCV002098284 uncertain significance not provided 2022-02-16 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533)

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