ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.3330T>C (p.Tyr1110=)

gnomAD frequency: 0.00114  dbSNP: rs139711748
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001690554 SCV001908113 benign not provided 2020-03-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002073231 SCV002402701 benign Transposition of the great arteries, dextro-looped 2024-11-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001690554 SCV005092213 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing MED13L: BP4, BP7, BS1
PreventionGenetics, part of Exact Sciences RCV004536252 SCV004753480 likely benign MED13L-related disorder 2019-05-31 no assertion criteria provided 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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