Submissions for variant NM_207122.2(EXT2):c.1017T>C (p.Cys339=)

gnomAD frequency: 0.00930  dbSNP: rs11828047

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001083101	SCV000371843	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). No publications were found based on this search. Allele frequency data from public databases allowed determination 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	RCV000514143	SCV000609875	likely benign	not provided	2017-04-19	criteria provided, single submitter	clinical testing
Invitae	RCV001083101	SCV000640982	benign	Exostoses, multiple, type 2	2024-01-30	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002504063	SCV002804661	likely benign	Exostoses, multiple, type 2; Seizures-scoliosis-macrocephaly syndrome	2022-05-17	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003316473	SCV004017522	benign	Exostoses, multiple, type 1	2023-07-07	criteria provided, single submitter	clinical testing