ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.2627AGA[1] (p.Lys877del)

dbSNP: rs1555812473
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671884 SCV000796914 uncertain significance Dyskeratosis congenita, autosomal recessive 5 2018-01-05 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714661 SCV000845380 uncertain significance Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 2018-08-07 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000671884 SCV000845381 uncertain significance Dyskeratosis congenita, autosomal recessive 5 2018-08-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004527728 SCV004108871 uncertain significance RTEL1-related disorder 2022-12-27 criteria provided, single submitter clinical testing The RTEL1 c.2702_2704delAGA variant is predicted to result in an in-frame deletion (p.Lys901del). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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