ClinVar Miner

Submissions for variant NM_015335.4(MED13L):c.4956-2A>C (rs1057518705)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000415412 SCV000328814 pathogenic Mental retardation and distinctive facial features with or without cardiac defects 2015-08-24 no assertion criteria provided clinical testing Our lab has reported dual molecular diagnoses of MED13L (NM_015335.4, c.4956-2A>C) and HUWE1 (NM_031407.5, c.3239G>A) for this individual with developmental delay, intellectual disability, and right club foot. New evidence suggests that haploinsufficiency of MED13L can cause intellectual disability, developmental delay, facial abnormalities, hypotonia, and autism (PMID 24781760, 25356899, 25167861, 22542183, 23403903, 24901346).

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