ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.172C>T (p.Arg58Cys)

gnomAD frequency: 0.08810  dbSNP: rs34312154
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000118118 SCV000310819 benign not specified 2016-01-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000390783 SCV000372482 benign Congenital myasthenic syndrome 11 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 RCV000311015 SCV000372483 benign Fetal akinesia deformation sequence 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.
GeneDx RCV000118118 SCV000519585 benign not specified 2016-05-25 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 RCV001521377 SCV001730712 benign Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001538027 SCV001755013 benign Fetal akinesia deformation sequence 2 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000390783 SCV001755014 benign Congenital myasthenic syndrome 11 2021-07-10 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000118118 SCV002050964 likely benign not specified 2021-12-10 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118118 SCV000152462 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Natera, Inc. RCV001275252 SCV001460224 benign Congenital myasthenic syndrome 2020-09-16 no assertion criteria provided clinical testing

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