Submissions for variant NM_000127.3(EXT1):c.1536+7G>A

gnomAD frequency: 0.00041  dbSNP: rs200128437

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000245694	SCV000302388	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000951558	SCV000471522	likely benign	Multiple congenital exostosis	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000951558	SCV001097968	benign	Multiple congenital exostosis	2025-01-23	criteria provided, single submitter	clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	RCV003237803	SCV002010208	likely benign	not provided	2021-11-03	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003316326	SCV004017508	benign	Exostoses, multiple, type 1	2023-07-07	criteria provided, single submitter	clinical testing