ClinVar Miner

Submissions for variant NM_002222.6(ITPR1):c.6528A>G (p.Thr2176=) (rs13079522)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000404506 SCV000444986 benign Autosomal dominant cerebellar ataxia 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.
Athena Diagnostics Inc RCV000117302 SCV001475927 benign not specified 2019-09-04 criteria provided, single submitter clinical testing
Invitae RCV001521932 SCV001731369 benign not provided 2020-12-08 criteria provided, single submitter clinical testing
GeneDx RCV001521932 SCV001842316 benign not provided 2018-07-26 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000117302 SCV000151483 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 RCV000117302 SCV001742063 benign not specified no assertion criteria provided clinical testing

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