ClinVar Miner

Submissions for variant NM_015335.4(MED13L):c.3469C>T (p.Gln1157Ter) (rs1555245108)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000578613 SCV000681300 pathogenic not provided 2018-01-02 criteria provided, single submitter clinical testing The Q1157X 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 either through protein truncation or nonsense-mediated mRNA decay. The Q1157X variant is not observed in large population cohorts (Lek et al., 2016). We interpret Q1157X as a pathogenic variant.
GenomeConnect - Simons Searchlight RCV001265257 SCV001443373 pathogenic Mental retardation and distinctive facial features with or without cardiac defects 2018-03-13 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-03-13 and interpreted as Pathogenic. Variant was initially reported on 2018-01-19 by GTR ID of laboratory name 26957. The reporting laboratory might also submit to ClinVar.

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