ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.5664A>G (p.Gln1888=)

gnomAD frequency: 0.00017  dbSNP: rs143739741
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001665431 SCV001872871 likely benign not provided 2021-03-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002538548 SCV003241983 benign Transposition of the great arteries, dextro-looped 2024-10-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001665431 SCV004132018 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing MED13L: BP4, BP7

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