ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.7479G>T (p.Gly2493=)

gnomAD frequency: 0.42978  dbSNP: rs10747559
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000080211 SCV000112106 benign not specified 2016-10-05 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000080211 SCV000193473 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000080211 SCV000309630 benign not specified criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000080211 SCV000539485 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000999790 SCV000604079 benign Kabuki syndrome 1 2018-08-23 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000712311 SCV000842776 benign not provided 2018-05-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001514086 SCV001721837 benign Kabuki syndrome 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000712311 SCV001940582 benign not provided 2020-05-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000999790 SCV001981143 benign Kabuki syndrome 1 2021-08-19 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000080211 SCV004233180 benign not specified 2024-01-24 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 64% of patients studied by a panel of primary immunodeficiencies. Number of patients: 61. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV000712311 SCV005235754 benign not provided criteria provided, single submitter not provided

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