ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.2219_2227del (p.His740_Ile742del)

dbSNP: rs863225053
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
University of Washington Center for Mendelian Genomics, University of Washington RCV000201532 SCV000256241 pathogenic Interstitial lung disease 2 2015-05-19 criteria provided, single submitter research
GeneDx RCV001731430 SCV001982192 likely pathogenic not provided 2020-11-13 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek 2016); In-frame deletion of three amino acids in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 25607374)
OMIM RCV003329257 SCV000255954 pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2015-03-15 no assertion criteria provided literature only

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