ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.4120del (p.Glu1374fs)

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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 RCV001265260 SCV001443376 pathogenic Mental retardation and distinctive facial features with or without cardiac defects 2018-07-02 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-07-02 and interpreted as Pathogenic. Variant was initially reported on 2018-05-04 by GTR ID of laboratory name 26957. The reporting laboratory might also submit to ClinVar.

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