ClinVar Miner

Submissions for variant NM_015335.4(MED13L):c.6556C>T (p.Gln2186Ter) (rs1555239555)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520418 SCV000620038 likely pathogenic not provided 2017-08-18 criteria provided, single submitter clinical testing The Q2186X variant in the MED13L gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function through protein truncation, as the last 25 amino acids of the protein are lost. The Q2186X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret Q2186X as a likely pathogenic variant.
GenomeConnect - Simons Searchlight RCV001265315 SCV001443432 likely pathogenic Mental retardation and distinctive facial features with or without cardiac defects 2017-09-18 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2017-09-18 and interpreted as Likely Pathogenic. Variant was initially reported on 2017-08-29 by GTR ID of laboratory name 26957. The reporting laboratory might also submit to ClinVar.

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