Submissions for variant NM_001197104.2(KMT2A):c.7183T>C (p.Ser2395Pro)

gnomAD frequency: 0.00059  dbSNP: rs142985138

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000896078	SCV001040153	benign	not provided	2025-01-27	criteria provided, single submitter	clinical testing
GeneDx	RCV000896078	SCV001891656	benign	not provided	2019-05-13	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002539442	SCV003695349	likely benign	Inborn genetic diseases	2022-11-07	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.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000896078	SCV001799416	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000896078	SCV001931483	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000896078	SCV001972733	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003950467	SCV004758517	likely benign	KMT2A-related disorder	2022-06-07	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).