Submissions for variant NM_001378452.1(ITPR1):c.3207C>T (p.Thr1069=)

gnomAD frequency: 0.00143  dbSNP: rs186541002

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000318051	SCV000339948	likely benign	not specified	2016-02-24	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000312935	SCV000444947	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000958523	SCV001105376	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000958523	SCV001803411	likely benign	not provided	2021-04-26	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000318051	SCV001880161	benign	not specified	2021-02-09	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000958523	SCV001962461	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	ITPR1: BP4, BP7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000958523	SCV001743387	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000958523	SCV001927097	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000958523	SCV001965712	likely benign	not provided		no assertion criteria provided	clinical testing