ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.395+1G>A

dbSNP: rs1874072309
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Laboratory, Strasbourg University Hospital RCV001257600 SCV001434410 likely pathogenic Intellectual disability 2020-04-20 criteria provided, single submitter clinical testing
3billion RCV001775161 SCV002012204 pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome 2021-10-02 criteria provided, single submitter clinical testing Canonical splice site: predicted to alter splicing and result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant (PVS1_VS). It is not observed in the gnomAD v2.1.1 dataset (PM2). The variant has been reported as pathogenic (ClinVar ID: VCV000978841.1). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.

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