ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.5444del (p.Thr1815fs)

dbSNP: rs879255407
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000239101 SCV000297254 pathogenic not provided 2015-08-10 criteria provided, single submitter clinical testing
GenomeConnect - Simons Searchlight RCV001265311 SCV001443428 pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome 2016-09-01 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2016-09-01 and interpreted as Pathogenic. Variant was initially reported on 2015-08-10 by GTR ID of laboratory name 165021. The reporting laboratory might also submit to ClinVar.

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