ClinVar Miner

Submissions for variant NM_001852.4(COL9A2):c.2019G>A (p.Ser673=)

gnomAD frequency: 0.00168  dbSNP: rs148008235
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724530 SCV000229543 uncertain significance not provided 2015-01-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000253474 SCV000308378 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000724530 SCV000721446 likely benign not provided 2021-08-10 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001100946 SCV001257498 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000724530 SCV001720674 benign not provided 2024-01-02 criteria provided, single submitter clinical testing

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