ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.195C>T (p.Asp65=)

gnomAD frequency: 0.00006  dbSNP: rs752413439
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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 RCV001473338 SCV001677490 likely benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2024-03-13 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001820167 SCV002071191 likely benign not specified 2019-09-11 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256788 SCV002535306 likely benign Dyskeratosis congenita 2021-03-24 criteria provided, single submitter curation
Ambry Genetics RCV003160920 SCV003856218 likely benign Inborn genetic diseases 2023-01-28 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.

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