ClinVar Miner

Submissions for variant NM_001852.4(COL9A2):c.2001C>T (p.Ala667=)

gnomAD frequency: 0.01771  dbSNP: rs2229826
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000248479 SCV000308377 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000276253 SCV000357489 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 RCV000248479 SCV000528072 benign not specified 2016-10-24 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 RCV000991651 SCV001143293 benign not provided 2019-02-13 criteria provided, single submitter clinical testing
Invitae RCV000991651 SCV001728806 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002278154 SCV002566418 benign Connective tissue disorder 2022-05-12 criteria provided, single submitter clinical testing

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