ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.3049G>A (p.Asp1017Asn)

gnomAD frequency: 0.00096  dbSNP: rs61736617
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000651134 SCV000772984 likely benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2024-01-31 criteria provided, single submitter clinical testing
Mendelics RCV002248847 SCV002519995 benign not specified 2022-05-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004597848 SCV005093157 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing RTEL1: BP4
Natera, Inc. RCV001273629 SCV001456920 likely benign Dyskeratosis congenita 2020-09-16 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004544897 SCV004778111 likely benign RTEL1-related disorder 2023-01-05 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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