ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.3393G>A (p.Thr1131=)

gnomAD frequency: 0.00019  dbSNP: rs142965557
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000925999 SCV001071556 likely benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2025-01-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV004029513 SCV005029304 likely benign Inborn genetic diseases 2023-12-14 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. RCV001272198 SCV001453928 uncertain significance Dyskeratosis congenita 2020-02-13 no assertion criteria provided clinical testing
Genetic Services Laboratory, University of Chicago RCV003151222 SCV003840008 likely benign not specified 2022-09-13 no assertion criteria provided clinical testing

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