Submissions for variant NM_001283009.2(RTEL1):c.3823-5C>G

gnomAD frequency: 0.00252  dbSNP: rs141522376

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000503641	SCV000596836	likely benign	not specified	2017-01-13	criteria provided, single submitter	clinical testing
Invitae	RCV000525423	SCV000653585	benign	Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	2024-01-31	criteria provided, single submitter	clinical testing
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital	RCV000503641	SCV000864381	benign	not specified	2017-08-22	criteria provided, single submitter	clinical testing	BS1, BS2; This alteration has an allele frequency that is greater than expected for the associated disease, and was seen in a healthy adult where full penetrance of the disorder is expected at an early age.
Sema4, Sema4	RCV001829432	SCV002533613	benign	Dyskeratosis congenita	2020-12-21	criteria provided, single submitter	curation
CeGaT Center for Human Genetics Tuebingen	RCV001573048	SCV004151008	likely benign	not provided	2024-05-01	criteria provided, single submitter	clinical testing	RTEL1: BP4, BS2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573048	SCV001798351	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001573048	SCV001955787	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001573048	SCV001964043	likely benign	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001829432	SCV002095581	likely benign	Dyskeratosis congenita	2019-12-16	no assertion criteria provided	clinical testing