ClinVar Miner

Submissions for variant NM_015335.4(MED13L):c.5588+1G>A (rs1135401810)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris RCV000496142 SCV000586777 pathogenic Mental retardation and distinctive facial features with or without cardiac defects 2017-01-06 criteria provided, single submitter clinical testing Intellectual disability, moderate; pyramidal syndrome; overweight
GenomeConnect - Simons Searchlight RCV000496142 SCV001443162 likely pathogenic Mental retardation and distinctive facial features with or without cardiac defects 2017-02-21 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2017-02-21 and interpreted as Likely Pathogenic. Variant was initially reported on 2016-03-02 by GTR ID of laboratory name Hopitaux Universitaires Pitie-Salpetriere Charles Foix . The reporting laboratory might also submit to ClinVar. Identified in multiple siblings and inherited from a parent with germline mosaicism. Additional phenotypic information for other sibling(s) might be available from Simons Searchlight.

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