ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.995A>G (p.Glu332Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV001249743 SCV001423775 likely pathogenic MED13L-related neurodevelopmental disorder 2020-03-06 criteria provided, single submitter clinical testing The MED13L c.995A>G (p.Glu332Gly) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in the Genome Aggregation Database in a region of good sequencing coverage, so the variant is presumed to be rare. Based on the rarity of the variant and identification in a de novo state, the p.Glu332Gly variant is classified as likely pathogenic for MED13L-related neurodevelopmental disorder.

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