Submissions for variant NM_001197104.2(KMT2A):c.2726G>A (p.Gly909Asp)

gnomAD frequency: 0.00065  dbSNP: rs139227835

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514160	SCV000609646	likely benign	not provided	2017-08-30	criteria provided, single submitter	clinical testing
Invitae	RCV000514160	SCV001061121	likely benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000514160	SCV001777853	benign	not provided	2021-08-23	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000514160	SCV003916788	likely benign	not provided	2024-05-01	criteria provided, single submitter	clinical testing	KMT2A: BS1
PreventionGenetics, part of Exact Sciences	RCV003942671	SCV004775157	likely benign	KMT2A-related disorder	2021-09-15	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Ambry Genetics	RCV004023476	SCV004896183	likely benign	Inborn genetic diseases	2021-09-29	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.