ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.3498G>T (p.Ala1166=)

gnomAD frequency: 0.00013  dbSNP: rs200960898
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000761841 SCV000892045 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing MED13L: BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV002533886 SCV003456897 benign Transposition of the great arteries, dextro-looped 2024-04-30 criteria provided, single submitter clinical testing

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