ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.2318del (p.Ser773fs)

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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 RCV001290361 SCV001478246 pathogenic Mental retardation and distinctive facial features with or without cardiac defects 2020-10-14 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 our patient: PVS1, PS2, and PM2. 2

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