ClinVar Miner

Submissions for variant NM_002222.6(ITPR1):c.3822C>T (p.Asn1274=) (rs182840163)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000298823 SCV000343829 benign not specified 2016-08-26 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000262699 SCV000444958 benign Spinocerebellar Ataxia, Dominant 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.
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000625898 SCV000746477 likely pathogenic Spinocerebellar ataxia type 15/16 2017-12-03 criteria provided, single submitter clinical testing
Invitae RCV000881113 SCV001024256 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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