ClinVar Miner

Submissions for variant NM_015335.4(MED13L):c.1858_1860delinsCTCGAACA (p.Gly620fs) (rs1555247853)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624545 SCV000742427 pathogenic Inborn genetic diseases 2017-04-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: LIKELY POSITIVE: Relevant Alteration(s) Detected
GenomeConnect - Simons Searchlight RCV001265259 SCV001443375 pathogenic Mental retardation and distinctive facial features with or without cardiac defects 2018-03-02 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-03-02 and interpreted as Pathogenic. Variant was initially reported on 2017-05-12 by GTR ID of laboratory name 61756. The reporting laboratory might also submit to ClinVar.

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