ClinVar Miner

Submissions for variant NM_016434.3(RTEL1):c.3343+8G>A (rs768036242)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768304 SCV000898940 uncertain significance Dyskeratosis congenita, autosomal recessive, 5; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 2017-10-31 criteria provided, single submitter clinical testing RTEL1 NM_032957.4 exon 32 c.3415+8G>A: This variant has not been reported in the literature but is present in 1/105350 European alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs768036242). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant is an intronic variant with no predicted change in the amino acid sequence but may have an unknown effect on splicing. Further studies are needed to understand its impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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