ClinVar Miner

Submissions for variant NM_001197104.2(KMT2A):c.5431C>T (p.Arg1811Ter) (rs1555043796)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000988753 SCV001138604 likely pathogenic Wiedemann-Steiner syndrome 2019-05-28 criteria provided, single submitter clinical testing
Laboratoire Génétique Moléculaire, CHRU TOURS RCV001541942 SCV001760576 pathogenic not provided 2021-05-03 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001541942 SCV001807008 pathogenic not provided no assertion criteria provided clinical testing

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