ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.5990dup (p.Leu1997fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001336285 SCV001529629 pathogenic Transposition of the great arteries, dextro-looped 1 2018-02-21 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
GenomeConnect - Simons Searchlight RCV001265258 SCV001443374 pathogenic Mental retardation and distinctive facial features with or without cardiac defects 2018-03-09 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-03-09 and interpreted as Pathogenic. Variant was initially reported on 2018-02-21 by GTR ID of laboratory name 1006. The reporting laboratory might also submit to ClinVar.

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