ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.3087G>A (p.Leu1029=)

gnomAD frequency: 0.00001  dbSNP: rs753147923
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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 RCV000975341 SCV001123224 likely benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2024-09-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002511005 SCV002821081 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing RTEL1: BP4, BP7
GeneDx RCV002511005 SCV005392418 uncertain significance not provided 2024-04-30 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004958340 SCV005487378 likely benign Inborn genetic diseases 2024-12-07 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. RCV001832221 SCV002095532 likely benign Dyskeratosis congenita 2021-05-10 no assertion criteria provided clinical testing

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