ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.3630C>T (p.His1210=)

gnomAD frequency: 0.00007  dbSNP: rs564198378
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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 RCV000554113 SCV000653584 likely benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2024-01-28 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002255153 SCV002533608 likely benign Dyskeratosis congenita 2021-06-25 criteria provided, single submitter curation
Ambry Genetics RCV002350378 SCV002622954 likely benign Inborn genetic diseases 2022-09-26 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.
Genetic Services Laboratory, University of Chicago RCV003151101 SCV003839997 likely benign not specified 2022-04-29 no assertion criteria provided clinical testing

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