Submissions for variant NM_001283009.2(RTEL1):c.2975C>T (p.Pro992Leu)

dbSNP: rs143967591

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000500930	SCV000596826	likely benign	not specified	2017-04-26	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000651124	SCV000772974	benign	Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	2025-01-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001200265	SCV001371176	likely benign	not provided	2024-10-01	criteria provided, single submitter	clinical testing	RTEL1: BP4
GeneDx	RCV001200265	SCV001819162	likely benign	not provided	2020-03-02	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 30842500, 29344583)
Sema4, Sema4	RCV001829431	SCV002533566	likely benign	Dyskeratosis congenita	2021-06-18	criteria provided, single submitter	curation
Breakthrough Genomics, Breakthrough Genomics	RCV001200265	SCV005206112	likely benign	not provided		criteria provided, single submitter	not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001200265	SCV001799054	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001200265	SCV001975685	likely benign	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001829431	SCV002095517	likely benign	Dyskeratosis congenita	2019-12-18	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004535616	SCV004744698	likely benign	RTEL1-related disorder	2019-07-26	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).