ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.3219C>T (p.Ser1073=)

gnomAD frequency: 0.00003  dbSNP: rs376151757
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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 RCV000548511 SCV000653581 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
Ambry Genetics RCV003302881 SCV003999465 likely benign Inborn genetic diseases 2023-03-20 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV004543224 SCV004777837 likely benign RTEL1-related disorder 2020-05-11 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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