ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.1260C>T (p.Ser420=)

gnomAD frequency: 0.00032  dbSNP: rs188479221
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000499652 SCV000596811 likely benign not specified 2015-10-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000651116 SCV000772966 benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2025-02-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002383971 SCV002693078 likely benign Inborn genetic diseases 2022-05-02 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.
Breakthrough Genomics, Breakthrough Genomics RCV004704027 SCV005210170 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001272640 SCV001454879 benign Dyskeratosis congenita 2020-09-16 no assertion criteria provided clinical testing

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