ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.2056A>C (p.Lys686Gln)

gnomAD frequency: 0.00126  dbSNP: rs139048741
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000463434 SCV000561098 benign Transposition of the great arteries, dextro-looped 2024-01-16 criteria provided, single submitter clinical testing
GeneDx RCV001572726 SCV001837992 benign not provided 2021-02-09 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001572726 SCV004132046 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing MED13L: BP4, BS1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001572726 SCV001797528 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001572726 SCV001975823 likely benign not provided no assertion criteria provided clinical testing

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