ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.72+10C>T

gnomAD frequency: 0.00001  dbSNP: rs779448093
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000864390 SCV001890469 benign not provided 2020-07-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002064491 SCV002483341 likely benign Transposition of the great arteries, dextro-looped 2021-11-02 criteria provided, single submitter clinical testing

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