ClinVar Miner

Submissions for variant NC_000020.10:g.(?_62309488)_(62312082_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003107335 SCV003793513 pathogenic Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2022-04-22 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 11-14 of the RTEL1 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in RTEL1 are known to be pathogenic (PMID: 23453664, 23959892, 25607374). This variant has not been reported in the literature in individuals affected with RTEL1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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