ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.793C>T (p.Arg265Cys)

gnomAD frequency: 0.00009  dbSNP: rs766543419
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000836 SCV001157906 uncertain significance Kabuki syndrome 1 2018-09-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001858913 SCV002147942 likely benign Kabuki syndrome 2024-06-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003392728 SCV004130837 uncertain significance not provided 2022-09-01 criteria provided, single submitter clinical testing KMT2D: PP2, PP3
Fulgent Genetics, Fulgent Genetics RCV005012433 SCV005637192 likely benign Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome 2024-04-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004545007 SCV004765764 uncertain significance KMT2D-related disorder 2024-02-13 no assertion criteria provided clinical testing The KMT2D c.793C>T variant is predicted to result in the amino acid substitution p.Arg265Cys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.010% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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