ClinVar Miner

Submissions for variant NM_003482.3(KMT2D):c.15694A>G (p.Ile5232Val) (rs199593058)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000321373 SCV000379153 uncertain significance Kabuki syndrome 2016-06-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000733020 SCV000861032 uncertain significance not provided 2018-05-17 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768006 SCV000898785 uncertain significance Kabuki syndrome 1 2017-10-10 criteria provided, single submitter clinical testing KMT2D NM_003482.3 exon 48 p.Ile5232Val (c.15694A>G): This variant has not been reported in the literature but is present in 25/126658 European alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs199593058). This variant is present in ClinVar (Variation ID:309000). Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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