ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.1482-7C>T

gnomAD frequency: 0.00043  dbSNP: rs189271525
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000884839 SCV001028241 likely benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2025-01-14 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001275095 SCV002535290 likely benign Dyskeratosis congenita 2020-10-09 criteria provided, single submitter curation
Natera, Inc. RCV001275095 SCV001459849 uncertain significance Dyskeratosis congenita 2020-02-13 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004541797 SCV004768803 likely benign RTEL1-related disorder 2019-12-17 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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