ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.4622del (p.Thr1541fs)

dbSNP: rs1877476585
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196006 SCV001366435 pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2,PM6. This variant arose de novo in at least one reported proband.

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