ClinVar Miner

Submissions for variant NM_001197104.2(KMT2A):c.4696G>A (p.Gly1566Arg)

dbSNP: rs2134335014
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV001374926 SCV001572213 likely pathogenic Neurodevelopmental disorder 2021-03-11 criteria provided, single submitter clinical testing
Laboratoire de Génétique Moléculaire, CHU Bordeaux RCV003148986 SCV003836716 likely pathogenic Wiedemann-Steiner syndrome 2021-06-01 criteria provided, single submitter clinical testing
GeneDx RCV004770128 SCV005377829 likely pathogenic not provided 2024-04-15 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; In silico analysis also supports that this variant has a deleterious effect on splicing.; This variant is associated with the following publications: (PMID: 34828665)

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