Submissions for variant NM_001378452.1(ITPR1):c.4843-8C>T

gnomAD frequency: 0.00119  dbSNP: rs41304179

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics	RCV000516490	SCV000613796	benign	not specified	2021-05-05	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000899900	SCV001044190	likely benign	not provided	2023-12-16	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000899900	SCV001153754	likely benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	ITPR1: BP4
Illumina Laboratory Services, Illumina	RCV001149471	SCV001310427	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.
GeneDx	RCV000899900	SCV001802496	likely benign	not provided	2021-04-20	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003962432	SCV004776408	likely benign	ITPR1-related disorder	2024-02-27	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille	RCV001251783	SCV001427525	likely benign	Intellectual disability	2019-01-01	no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000899900	SCV001800516	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000899900	SCV001930119	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000899900	SCV001974427	likely benign	not provided		no assertion criteria provided	clinical testing