Submissions for variant NM_003482.4(KMT2D):c.12913G>A (p.Val4305Ile)

gnomAD frequency: 0.00195  dbSNP: rs199895011

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000080125	SCV000112020	benign	not specified	2012-09-14	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000080125	SCV000193387	benign	not specified	2019-02-26	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224717	SCV000281095	likely benign	not provided	2016-01-18	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
PreventionGenetics, part of Exact Sciences	RCV000080125	SCV000309601	likely benign	not specified		criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000350866	SCV001012436	likely benign	Kabuki syndrome	2024-01-30	criteria provided, single submitter	clinical testing
GeneDx	RCV000224717	SCV001869012	benign	not provided	2019-11-07	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 24728327, 30459467)
Fulgent Genetics, Fulgent Genetics	RCV002498410	SCV002806068	likely benign	Kabuki syndrome 1	2021-10-19	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003242978	SCV003964362	likely benign	Inborn genetic diseases	2023-05-30	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen	RCV000224717	SCV004130714	likely benign	not provided	2024-05-01	criteria provided, single submitter	clinical testing	KMT2D: BS1
ITMI	RCV000080125	SCV000085623	not provided	not specified	2013-09-19	no assertion provided	reference population
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000224717	SCV001743530	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000224717	SCV001974667	likely benign	not provided		no assertion criteria provided	clinical testing