Submissions for variant NM_207122.2(EXT2):c.124A>G (p.Met42Val)

gnomAD frequency: 0.01478  dbSNP: rs4755779

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000120880	SCV000317229	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001086119	SCV000371826	likely benign	Exostoses, multiple, type 2	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514384	SCV000609632	benign	not provided	2017-05-04	criteria provided, single submitter	clinical testing
Invitae	RCV001086119	SCV001001047	benign	Exostoses, multiple, type 2	2024-01-28	criteria provided, single submitter	clinical testing
GeneDx	RCV000514384	SCV001884320	benign	not provided	2020-10-21	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003315753	SCV004017520	benign	Exostoses, multiple, type 1	2023-07-07	criteria provided, single submitter	clinical testing
ITMI	RCV000120880	SCV000085048	not provided	not specified	2013-09-19	no assertion provided	reference population