ClinVar Miner

Submissions for variant NM_000127.2(EXT1):c.1536+7G>A (rs200128437)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000245694 SCV000302388 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,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.
Invitae RCV000951558 SCV001097968 benign Multiple congenital exostosis 2020-10-28 criteria provided, single submitter clinical testing

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