ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.1590C>T (p.Ala530=)

gnomAD frequency: 0.00638  dbSNP: rs114269768
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000525362 SCV000639014 benign Transposition of the great arteries, dextro-looped 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV001613353 SCV001837026 benign not provided 2019-12-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001613353 SCV005233776 benign not provided criteria provided, single submitter not provided

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