ClinVar Miner

Submissions for variant NM_001197104.1(KMT2A):c.3301C>T (p.Arg1101Ter) (rs886041856)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000392937 SCV000330636 pathogenic not provided 2016-07-05 criteria provided, single submitter clinical testing The R1101X pathogenic variant in the KMT2A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R1101X variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret R1101X as a pathogenic variant.
Ambry Genetics RCV001267617 SCV001445799 pathogenic Inborn genetic diseases 2018-10-17 criteria provided, single submitter clinical testing
Knight Diagnostic Laboratories, Oregon Health and Sciences University RCV001254088 SCV001448925 likely pathogenic Wiedemann-Steiner syndrome 2018-08-10 criteria provided, single submitter clinical testing
Laboratory of Molecular Genetics,CHU RENNES RCV000415284 SCV000493085 likely pathogenic intellectual deficiency no assertion criteria provided clinical testing
Institute of Human Genetics, Klinikum rechts der Isar RCV001254088 SCV001430007 pathogenic Wiedemann-Steiner syndrome 2020-02-28 no assertion criteria provided clinical testing

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