Submissions for variant NM_025099.6(CTC1):c.3013A>G (p.Ile1005Val)

gnomAD frequency: 0.77529  dbSNP: rs3826543

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000116841	SCV000314508	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000367367	SCV000407596	benign	Dyskeratosis congenita	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000116841	SCV000603231	benign	not specified	2016-08-08	criteria provided, single submitter	clinical testing
Invitae	RCV000367367	SCV001721720	benign	Dyskeratosis congenita	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001618270	SCV001845750	benign	not provided	2018-11-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001657711	SCV001876371	benign	Cerebroretinal microangiopathy with calcifications and cysts 1	2021-07-30	criteria provided, single submitter	clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV000116841	SCV004232995	benign	not specified	2024-01-24	criteria provided, single submitter	clinical testing	This variant is classified as Benign based on local population frequency. This variant was detected in 85% of patients studied by a panel of primary immunodeficiencies. Number of patients: 81. Only high quality variants are reported.
Genetic Services Laboratory, University of Chicago	RCV000116841	SCV000150915	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000116841	SCV001743768	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000116841	SCV001956706	benign	not specified		no assertion criteria provided	clinical testing
GenomeConnect, ClinGen	RCV001618270	SCV002074598	not provided	not provided		no assertion provided	phenotyping only	Variant interpreted as Benign and reported on 04-27-2020 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. This variant was reported in an individual referred for clinical diagnostic genetic testing.