Submissions for variant NM_003482.4(KMT2D):c.2506C>A (p.Gln836Lys)

gnomAD frequency: 0.00019  dbSNP: rs200192746

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000146196	SCV000193431	likely benign	not specified	2015-04-22	criteria provided, single submitter	clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000659703	SCV000781550	likely benign	Kabuki syndrome 1	2016-11-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001404137	SCV001606028	likely benign	Kabuki syndrome	2025-01-27	criteria provided, single submitter	clinical testing
GeneDx	RCV001709495	SCV001938643	benign	not provided	2020-02-11	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 30459467)
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV003224166	SCV003920125	uncertain significance	Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome	2021-03-30	criteria provided, single submitter	clinical testing	KMT2D NM_003482.3 exon 10 p.Gln836Lys (c.2506C>A): This variant has not been reported in the literature but is present in 0.03% (40/100306) of European alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/12-49444960-G-T). This variant is present in ClinVar (Variation ID:158754). 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.
Breakthrough Genomics, Breakthrough Genomics	RCV001709495	SCV005213081	likely benign	not provided		criteria provided, single submitter	not provided