ClinVar Miner

Submissions for variant NM_001378452.1(ITPR1):c.3457A>G (p.Met1153Val) (rs199698357)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000363994 SCV000444951 likely benign Autosomal dominant cerebellar ataxia 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000415780 SCV000493438 uncertain significance not provided 2016-07-01 criteria provided, single submitter clinical testing
Schule lab,Hertie Institute for Clinical Brain Research RCV000677357 SCV000700179 likely benign Spinocerebellar ataxia type 29 2018-02-09 criteria provided, single submitter research
Athena Diagnostics Inc RCV000415780 SCV001475183 likely benign not provided 2019-10-31 criteria provided, single submitter clinical testing

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