Submissions for variant NM_001283009.2(RTEL1):c.1761G>A (p.Pro587=)

gnomAD frequency: 0.00329  dbSNP: rs116900568

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000501659	SCV000596815	benign	not specified	2016-09-23	criteria provided, single submitter	clinical testing
Invitae	RCV000651109	SCV000772959	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
Genome-Nilou Lab	RCV001543243	SCV001761770	benign	Dyskeratosis congenita, autosomal recessive 5	2021-07-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001543244	SCV001761771	benign	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	2021-07-10	criteria provided, single submitter	clinical testing
GeneDx	RCV001613324	SCV001840296	benign	not provided	2020-01-06	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002413378	SCV002716320	likely benign	Inborn genetic diseases	2022-03-12	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen	RCV001613324	SCV004150983	likely benign	not provided	2023-01-01	criteria provided, single submitter	clinical testing	RTEL1: BP4, BP7, BS2
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001613324	SCV001926338	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001613324	SCV001966271	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000501659	SCV002035664	benign	not specified		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001829429	SCV002095434	likely benign	Dyskeratosis congenita	2019-12-19	no assertion criteria provided	clinical testing