ClinVar Miner

Submissions for variant NM_000095.3(COMP):c.511G>A (p.Ala171Thr)

gnomAD frequency: 0.01840  dbSNP: rs115338183
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178711 SCV000230844 benign not specified 2015-02-26 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV000178711 SCV000302278 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000354091 SCV000411260 benign Multiple epiphyseal dysplasia type 1 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.
Illumina Laboratory Services, Illumina RCV000259246 SCV000411261 benign Pseudoachondroplastic spondyloepiphyseal dysplasia 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 RCV000881662 SCV001024852 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000881662 SCV001473938 benign not provided 2023-11-29 criteria provided, single submitter clinical testing
GeneDx RCV000881662 SCV001916888 benign not provided 2018-09-11 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277410 SCV002566468 benign Connective tissue disorder 2020-10-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485172 SCV002797229 benign Multiple epiphyseal dysplasia type 1; Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome; Carpal tunnel syndrome 2 2022-04-05 criteria provided, single submitter clinical testing

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