ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.1602C>G (p.Ser534=)

dbSNP: rs745339095
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001437881 SCV001640747 likely benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2023-07-28 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002255670 SCV002535294 likely benign Dyskeratosis congenita 2022-03-13 criteria provided, single submitter curation
Ambry Genetics RCV002405029 SCV002712768 likely benign Inborn genetic diseases 2022-01-30 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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