ClinVar Miner

Submissions for variant NM_000401.3(EXT2):c.223A>G (p.Met75Val) (rs4755779)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000120880 SCV000317229 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001086119 SCV000371826 likely benign Multiple exostoses 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 Multiple exostoses type 2 2020-11-27 criteria provided, single submitter clinical testing
ITMI RCV000120880 SCV000085048 not provided not specified 2013-09-19 no assertion provided reference population

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