ClinVar Miner

Submissions for variant NM_001101426.4(CRPPA):c.55A>C (p.Ser19Arg) (rs7782939)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000117289 SCV000151464 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000117289 SCV000224298 benign not specified 2016-08-24 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000117289 SCV000269175 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Ser19Arg in exon 1 of ISPD: This variant is not expected to have clinical sign ificance because it has been identified in 39.9% (71/178) of English and Scottis h chromosomes from a broad population by the 1000 Genomes Project (http://www.nc bi.nlm.nih.gov/projects/SNP; dbSNP rs7782939).
PreventionGenetics,PreventionGenetics RCV000117289 SCV000306593 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000347035 SCV000468025 benign Congenital Muscular Dystrophy, alpha-dystroglycan related 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.
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000600664 SCV000734548 benign Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 no assertion criteria provided clinical testing

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