ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.3381C>T (p.Arg1127=)

dbSNP: rs368588082
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000499520 SCV000596831 uncertain significance not specified 2015-08-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001458338 SCV001662159 likely benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2024-09-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004535617 SCV004746120 likely benign RTEL1-related disorder 2020-11-24 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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