ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.1708_1709del (p.Ser570fs) (rs869025286)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Laboratory, Strasbourg University Hospital RCV001257601 SCV001434411 pathogenic Intellectual disability 2020-04-20 criteria provided, single submitter clinical testing
OMIM RCV000207251 SCV000262630 pathogenic Mental retardation and distinctive facial features with or without cardiac defects 2014-10-01 no assertion criteria provided literature only
GeneDx RCV001568518 SCV001792402 pathogenic not provided 2019-04-23 no assertion criteria provided clinical testing Not observed in large population cohorts (Lek et al., 2016); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 25969726, 29511999, 29595814, 28645799, 25356899)

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