ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.2239-7T>C

gnomAD frequency: 0.00032  dbSNP: rs144147395
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001516278 SCV001724540 benign Transposition of the great arteries, dextro-looped 2024-10-24 criteria provided, single submitter clinical testing
GeneDx RCV001655759 SCV001864382 benign not provided 2021-03-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001655759 SCV004132044 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing MED13L: BP4, BS1

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