ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.2239-11T>G

dbSNP: rs2137373566
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV001775236 SCV002011937 likely pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome 2021-10-02 criteria provided, single submitter clinical testing It is not observed in the gnomAD v2.1.1 dataset (PM2). The variant was observed as assumed (i.e. paternity and maternity not confirmed) de novoo (3billion dataset, PM6). In silico tools predict the variant to alter splicing and produce an abnormal transcript (ADA 0.99, RF 0.94 , PP3). Patient's phenotype is considered compatible with Mental retardation and distinctive facial features with or without cardiac defects(3billion dataset, PP4). Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline

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