ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.1564A>G (p.Ser522Gly)

gnomAD frequency: 0.00008  dbSNP: rs201414612
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001449112 SCV001652217 likely benign Transposition of the great arteries, dextro-looped 2023-06-08 criteria provided, single submitter clinical testing
GeneDx RCV001685357 SCV001903285 benign not provided 2020-04-13 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV003938799 SCV004757493 likely benign MED13L-related condition 2023-08-17 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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