Submissions for variant NM_001283009.2(RTEL1):c.1605G>A (p.Glu535=)

gnomAD frequency: 0.00132  dbSNP: rs114292675

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000499825	SCV000596814	likely benign	not specified	2015-09-24	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000887896	SCV001031487	benign	Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	2025-01-30	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002256323	SCV002535295	likely benign	Dyskeratosis congenita	2021-10-25	criteria provided, single submitter	curation
Ambry Genetics	RCV004023403	SCV005029324	likely benign	Inborn genetic diseases	2023-10-23	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.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001700197	SCV001926342	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001700197	SCV001967221	likely benign	not provided		no assertion criteria provided	clinical testing