Submissions for variant NM_001283009.2(RTEL1):c.2915C>T (p.Thr972Ile)

gnomAD frequency: 0.00055  dbSNP: rs199834369

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000813926	SCV000954310	benign	Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	2025-01-28	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV001825634	SCV002533564	likely benign	Dyskeratosis congenita	2022-01-03	criteria provided, single submitter	curation
Revvity Omics, Revvity	RCV003132082	SCV003814322	uncertain significance	not provided	2020-11-12	criteria provided, single submitter	clinical testing
GeneDx	RCV003132082	SCV005376660	uncertain significance	not provided	2023-10-19	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc.	RCV001825634	SCV002095508	benign	Dyskeratosis congenita	2020-02-02	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004538117	SCV004748153	likely benign	RTEL1-related disorder	2022-09-14	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).