ClinVar Miner

Submissions for variant NM_015335.4(MED13L):c.752A>G (p.Glu251Gly) (rs28940309)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000002187 SCV000746411 uncertain significance Transposition of the great arteries, dextro-looped 1 2017-12-03 criteria provided, single submitter clinical testing
OMIM RCV000002187 SCV000022345 pathogenic Transposition of the great arteries, dextro-looped 1 2003-12-09 no assertion criteria provided literature only

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