ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.347A>G (p.Tyr116Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Immunology and Genetics Kaiserslautern RCV004771597 SCV005382193 likely pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome 2024-09-20 criteria provided, single submitter clinical testing ACMG Criteria: PM2_P, PP3, PS2; Variant was found in heterozygous state. De novo-status was confirmed via in-house segregation analysis.

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