ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.3129A>G (p.Pro1043=)

gnomAD frequency: 0.00022  dbSNP: rs199578945
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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 RCV001084274 SCV001051506 likely benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2025-01-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000906842 SCV001153531 likely benign not provided 2017-07-01 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002255573 SCV002533582 likely benign Dyskeratosis congenita 2021-05-18 criteria provided, single submitter curation
Ambry Genetics RCV003169272 SCV003882048 likely benign Inborn genetic diseases 2023-02-16 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.
Natera, Inc. RCV001272195 SCV001453925 likely benign Dyskeratosis congenita, autosomal dominant 1 2020-06-05 no assertion criteria provided clinical testing

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