Submissions for variant NM_001197104.2(KMT2A):c.89C>G (p.Ala30Gly)

gnomAD frequency: 0.01573  dbSNP: rs9332745

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000146147	SCV000193365	benign	not specified	2013-11-19	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000442939	SCV000510646	likely benign	not provided	2017-01-24	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000442939	SCV001731674	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
GeneDx	RCV000442939	SCV001756024	benign	not provided	2019-07-24	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 28386644)
Breakthrough Genomics, Breakthrough Genomics	RCV000442939	SCV005214660	likely benign	not provided		criteria provided, single submitter	not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000442939	SCV001800414	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000146147	SCV001959563	benign	not specified		no assertion criteria provided	clinical testing