ClinVar Miner

Submissions for variant NC_000020.11:g.(?_63659403)_(63693293_?)dup

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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 RCV001033453 SCV001196760 uncertain significance Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2019-08-01 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals with RTEL1-related conditions. This variant results in a copy number gain of the genomic region encompassing exons 2-30 of the RTEL1 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 30 of the RTEL1 gene. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome.

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