ClinVar Miner

Submissions for variant NM_003659.4(AGPS):c.147C>T (p.Pro49=)

gnomAD frequency: 0.01033  dbSNP: rs34442536
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145009 SCV000192045 benign not specified 2013-08-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000145009 SCV000309763 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000145009 SCV000338177 benign not specified 2015-12-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001001695 SCV000419560 likely benign Rhizomelic chondrodysplasia punctata type 3 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 RCV000145009 SCV000516519 benign not specified 2016-12-05 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.
Invitae RCV000676025 SCV001096160 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001695 SCV001159267 benign Rhizomelic chondrodysplasia punctata type 3 2023-11-29 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001001695 SCV001736763 benign Rhizomelic chondrodysplasia punctata type 3 2021-05-18 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676025 SCV000801759 benign not provided 2017-07-12 no assertion criteria provided clinical testing
Natera, Inc. RCV001276315 SCV001462452 benign Rhizomelic chondrodysplasia punctata 2019-11-22 no assertion criteria provided clinical testing

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