Submissions for variant NM_003482.4(KMT2D):c.6392C>A (p.Thr2131Asn)

gnomAD frequency: 0.00009  dbSNP: rs587778463

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
New York Genome Center	RCV001781462	SCV002025719	uncertain significance	Kabuki syndrome 1	2020-04-30	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002055349	SCV002383624	likely benign	Kabuki syndrome	2024-02-19	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004639140	SCV005133497	likely benign	Inborn genetic diseases	2024-03-25	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.
Fulgent Genetics, Fulgent Genetics	RCV005008027	SCV005635970	likely benign	Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome	2024-02-28	criteria provided, single submitter	clinical testing
ITMI	RCV000121396	SCV000085581	not provided	not specified	2013-09-19	no assertion provided	reference population
PreventionGenetics, part of Exact Sciences	RCV004530010	SCV004727030	likely benign	KMT2D-related disorder	2023-11-01	no assertion criteria provided	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).