ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.6226-1G>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenomeConnect - Simons Searchlight RCV001265128 SCV001443161 pathogenic Mental retardation and distinctive facial features with or without cardiac defects 2017-03-03 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2017-03-03 and interpreted as Pathogenic. Variant was initially reported on 2016-06-10 by GTR ID of laboratory name Unite de Recherche Inserm Institut IMAGINE. The reporting laboratory might also submit to ClinVar. Inherited from a parent with suspected germline mosaicism.

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