ClinVar Miner

Submissions for variant NM_001852.4(COL9A2):c.364-8C>T

gnomAD frequency: 0.02379  dbSNP: rs11207843
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243140 SCV000308384 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000366682 SCV000357565 benign Epiphyseal dysplasia, multiple, 2 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.
GeneDx RCV000243140 SCV000730948 benign not specified 2016-12-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics Inc RCV000710924 SCV000841234 benign not provided 2018-05-24 criteria provided, single submitter clinical testing
Invitae RCV000710924 SCV001730900 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000710924 SCV001800585 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000243140 SCV001953298 benign not specified no assertion criteria provided clinical testing

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