ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.1192-9del

gnomAD frequency: 0.01145  dbSNP: rs200008996
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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 RCV000550134 SCV000653561 benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001546995 SCV001766611 likely benign not provided 2021-03-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV001834806 SCV002095404 likely benign Dyskeratosis congenita 2019-09-27 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004538072 SCV004729390 benign RTEL1-related disorder 2019-07-08 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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