ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.396-27T>C

gnomAD frequency: 0.00003  dbSNP: rs774523585
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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 RCV001493570 SCV001698203 likely benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2018-11-08 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000978133 SCV001715333 uncertain significance not provided 2020-12-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832254 SCV002095363 likely benign Dyskeratosis congenita 2021-01-13 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004535990 SCV004748588 likely benign RTEL1-related disorder 2019-06-04 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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