ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.5588+1G>A

dbSNP: 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 Cardiac anomalies - developmental delay - facial dysmorphism syndrome 2017-01-06 criteria provided, single submitter clinical testing Intellectual disability, moderate; pyramidal syndrome; overweight
GenomeConnect - Simons Searchlight RCV000496142 SCV001443162 likely pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome 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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