ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.4417C>T (p.Gln1473Ter)

dbSNP: rs1877535811
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Human Genetics, Universidade de São Paulo RCV001290360 SCV001478247 pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome 2021-01-05 criteria provided, single submitter clinical testing CNVs (Copy Number Variations), SNVs (Single Nucleotide Variations) and indels involving the MED13L gene (mediator complex subunit 13 like - OMIM*608771) can lead to an autosomal dominant clinical condition (Mental retardation and distinctive facial features with or without cardiac defects; MRFACD OMIM#616789) characterized by intellectual disability (ID) associated with facial dysmorphisms in which heart defects have incomplete penetrance (Cafiero et al., 2015; Asadollahi et al., 2017). ACMG rules for the variant: PVS1 and PM2

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