ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.4467C>T (p.Ser1489=)

gnomAD frequency: 0.00113  dbSNP: rs141892892
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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 RCV000640149 SCV000761737 benign Transposition of the great arteries, dextro-looped 2024-01-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001200350 SCV001371284 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing MED13L: BP4, BP7, BS1
GeneDx RCV001200350 SCV001865584 benign not provided 2021-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001200350 SCV005218864 likely benign not provided criteria provided, single submitter not provided

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