ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.2414-6C>T

gnomAD frequency: 0.00214  dbSNP: rs376868750
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000651115 SCV000772965 benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2025-02-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004597847 SCV005093156 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing RTEL1: BP4
Natera, Inc. RCV001835056 SCV002095461 likely benign Dyskeratosis congenita 2019-12-08 no assertion criteria provided clinical testing
Genetic Services Laboratory, University of Chicago RCV003151120 SCV003840002 likely benign not specified 2021-08-19 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004533408 SCV004746619 likely benign RTEL1-related disorder 2019-05-08 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).

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