ClinVar Miner

Submissions for variant NM_001852.4(COL9A2):c.1041C>T (p.Gly347=)

gnomAD frequency: 0.00110  dbSNP: rs138882727
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724381 SCV000227647 uncertain significance not provided 2014-11-24 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000400291 SCV000357537 likely benign Epiphyseal dysplasia, multiple, 2 2018-01-12 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx RCV000724381 SCV000534624 likely benign not provided 2020-12-31 criteria provided, single submitter clinical testing
Invitae RCV000724381 SCV001110040 likely benign not provided 2024-01-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000724381 SCV004127868 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing COL9A2: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003937589 SCV004749524 likely benign COL9A2-related condition 2019-11-05 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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