Submissions for variant NM_001283009.2(RTEL1):c.958+18C>T

gnomAD frequency: 0.68710  dbSNP: rs41309367

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000589296	SCV000699741	benign	not provided	2017-07-10	criteria provided, single submitter	clinical testing	Variant summary: The RTEL1 c.1030+18C>T variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 80332/120832 control chromosomes (27471 homozygotes) at a frequency of 0.6648239, which is approximately 595 times the estimated maximal expected allele frequency of a pathogenic RTEL1 variant (0.001118), suggesting this variant is likely a benign polymorphism. The observed allele frequency indicates that the T allele is the major allele (the most common allele observed in the general population). Therefore, this variant is classified as benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001522272	SCV001731787	benign	Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	2025-02-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001543194	SCV001761710	benign	Dyskeratosis congenita, autosomal recessive 5	2021-07-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001543195	SCV001761711	benign	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	2021-07-10	criteria provided, single submitter	clinical testing
GeneDx	RCV000589296	SCV001902257	benign	not provided	2018-11-12	criteria provided, single submitter	clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV001724069	SCV004232989	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 86% of patients studied by a panel of primary immunodeficiencies. Number of patients: 82. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics	RCV000589296	SCV005314056	benign	not provided		criteria provided, single submitter	not provided
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001724069	SCV001951711	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001724069	SCV001968868	benign	not specified		no assertion criteria provided	clinical testing