ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.1008A>C (p.Leu336=)

gnomAD frequency: 0.00084  dbSNP: rs150782464
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000862290 SCV001002774 benign Transposition of the great arteries, dextro-looped 2023-12-09 criteria provided, single submitter clinical testing
GeneDx RCV001692299 SCV001914706 benign not provided 2020-11-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001692299 SCV005233778 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004540161 SCV004769329 likely benign MED13L-related disorder 2019-11-26 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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