Submissions for variant NM_003482.4(KMT2D):c.10993C>G (p.Pro3665Ala)

gnomAD frequency: 0.00159  dbSNP: rs112170602

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000146150	SCV000193372	uncertain significance	Kabuki syndrome 1	2013-02-08	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000121422	SCV000229965	benign	not specified	2015-02-17	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000513704	SCV000610026	likely benign	not provided	2017-05-18	criteria provided, single submitter	clinical testing
GeneDx	RCV000513704	SCV000616754	benign	not provided	2019-11-21	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 24728327, 30459467)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000377054	SCV000636631	likely benign	Kabuki syndrome	2025-01-30	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000513704	SCV001144512	benign	not provided	2018-09-25	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000513704	SCV004130728	likely benign	not provided	2023-05-01	criteria provided, single submitter	clinical testing	KMT2D: PP2, BP4, BS1
ITMI	RCV000121422	SCV000085613	not provided	not specified	2013-09-19	no assertion provided	reference population