ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.94C>T (p.Leu32=)

gnomAD frequency: 0.00007  dbSNP: rs375849124
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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 RCV000897034 SCV001041150 likely benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2025-02-03 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002258030 SCV002535811 uncertain significance Dyskeratosis congenita 2021-04-07 criteria provided, single submitter curation
Ambry Genetics RCV002372522 SCV002688390 likely benign Inborn genetic diseases 2020-06-20 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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