ClinVar Miner

Submissions for variant NM_000127.3(EXT1):c.1065C>T (p.Cys355=)

gnomAD frequency: 0.23625  dbSNP: rs11546829
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176988 SCV000228788 benign not specified 2014-12-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000176988 SCV000302383 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000366409 SCV000471529 benign Multiple congenital exostosis 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Mendelics RCV000988112 SCV001137703 benign Exostoses, multiple, type 1 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000366409 SCV001729427 benign Multiple congenital exostosis 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001668340 SCV001889451 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000366409 SCV001933341 benign Multiple congenital exostosis 2021-08-10 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000988112 SCV004017501 benign Exostoses, multiple, type 1 2023-07-07 criteria provided, single submitter clinical testing

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