ClinVar Miner

Submissions for variant NC_000020.10:g.(?_61987307)_(62329916_?)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 RCV001972747 SCV002240839 pathogenic Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2021-04-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with RTEL1-related conditions. A gross deletion of the genomic region encompassing the full coding sequence of the RTEL1 gene has been identified. Loss-of-function variants in RTEL1 are known to be pathogenic (PMID: 23453664, 23959892, 25607374). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes.

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