ClinVar Miner

Submissions for variant NM_014053.4(FLVCR1):c.154G>C (p.Ala52Pro) (rs11120047)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000117087 SCV000339817 benign not specified 2016-02-17 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000349578 SCV000353961 benign Posterior column ataxia-retinitis pigmentosa syndrome 2018-01-13 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.
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000349578 SCV000744814 benign Posterior column ataxia-retinitis pigmentosa syndrome 2015-09-21 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000992002 SCV001143948 benign not provided 2019-05-21 criteria provided, single submitter clinical testing
Invitae RCV000992002 SCV001718205 benign not provided 2020-11-26 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000117087 SCV000151229 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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000349578 SCV000733982 benign Posterior column ataxia-retinitis pigmentosa syndrome no assertion criteria provided clinical testing

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