ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.3405G>A (p.Leu1135=)

dbSNP: rs1390155418
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001476048 SCV001680251 likely benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002454151 SCV002613965 likely benign Inborn genetic diseases 2020-12-18 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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