ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.1945C>T (p.Arg649Ter)

gnomAD frequency: 0.00004  dbSNP: rs765648513
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001039837 SCV001203386 pathogenic Exostoses, multiple, type 2 2021-09-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001091959 SCV001248263 pathogenic not provided 2017-06-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV001039837 SCV001259402 uncertain significance Exostoses, multiple, type 2 2018-07-26 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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx RCV001091959 SCV001763799 likely pathogenic not provided 2021-12-29 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 29625052, 25525159, 19344451, 26689913)
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center RCV002221603 SCV002499171 likely pathogenic Exostoses, multiple, type 2; Seizures-scoliosis-macrocephaly syndrome 2022-01-11 criteria provided, single submitter clinical testing PVS1, PM2, PS4_Supporiting

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