ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.1863T>C (p.Ile621=)

gnomAD frequency: 0.00444  dbSNP: rs61748071
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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 RCV000465066 SCV000561101 benign Transposition of the great arteries, dextro-looped 2025-02-02 criteria provided, single submitter clinical testing
GeneDx RCV001672793 SCV001890559 benign not provided 2019-10-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001672793 SCV002497637 benign not provided 2025-02-01 criteria provided, single submitter clinical testing MED13L: BP4, BP7, BS1, BS2
PreventionGenetics, part of Exact Sciences RCV004535478 SCV004736583 benign MED13L-related disorder 2019-05-09 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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