ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.2292G>A (p.Pro764=)

gnomAD frequency: 0.00011  dbSNP: rs754150111
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001436219 SCV001639055 likely benign Transposition of the great arteries, dextro-looped 2024-01-19 criteria provided, single submitter clinical testing
GeneDx RCV001581130 SCV001819549 likely benign not provided 2020-12-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003946138 SCV004763168 likely benign MED13L-related condition 2023-07-24 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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