ClinVar Miner

Submissions for variant NM_001378452.1(ITPR1):c.4263C>G (p.His1421Gln)

gnomAD frequency: 0.00436  dbSNP: rs61757110
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000351628 SCV000444962 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000419779 SCV000511116 likely benign not provided 2016-12-28 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV000419779 SCV001024257 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001288227 SCV001475188 benign not specified 2019-12-10 criteria provided, single submitter clinical testing
GeneDx RCV000419779 SCV001845650 benign not provided 2020-07-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000419779 SCV004146795 benign not provided 2023-10-01 criteria provided, single submitter clinical testing ITPR1: PP3, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000419779 SCV005262489 likely benign not provided criteria provided, single submitter not provided

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