ClinVar Miner

Submissions for variant NM_001379500.1(COL18A1):c.241C>T (p.Arg81Trp)

gnomAD frequency: 0.01115  dbSNP: rs76658745
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224600 SCV000281071 likely benign not provided 2015-09-25 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Illumina Laboratory Services, Illumina RCV000337693 SCV000436349 benign Knobloch syndrome 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 RCV000224600 SCV001729395 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818546 SCV002068498 benign not specified 2018-12-25 criteria provided, single submitter clinical testing

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