ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.1684C>T (p.Gln562Ter)

dbSNP: rs2137385115
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001732891 SCV001982345 pathogenic not provided 2021-09-29 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
GenomeConnect, ClinGen RCV001825017 SCV002074955 not provided MED13L-related disorder no assertion provided phenotyping only Variant interpreted as Pathogenic and reported on 10-15-2020 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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