ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.1482-10C>G

gnomAD frequency: 0.00001  dbSNP: rs754623770
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000922045 SCV001067462 benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2024-09-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275094 SCV001459848 uncertain significance Dyskeratosis congenita 2020-03-11 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004533550 SCV004708395 likely benign RTEL1-related disorder 2023-03-14 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).

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