ClinVar Miner

Submissions for variant NM_015335.4(MED13L):c.5996_5998delinsGTA (p.Phe1999_Pro2000delinsCysThr) (rs1555241160)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenomeConnect, ClinGen RCV000509327 SCV000607315 not provided Transposition of the great arteries, dextro-looped 1 no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
GenomeConnect - Simons Searchlight RCV001265309 SCV001443426 uncertain significance Mental retardation and distinctive facial features with or without cardiac defects 2018-05-25 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-05-25 and interpreted as Variant of Uncertain significance. Variant was initially reported on 2014-12-03 by GTR ID of laboratory name UCLA Molecular Diagnostics Laboratories . The reporting laboratory might also submit to ClinVar.

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