ClinVar Miner

Submissions for variant NM_032957.4(RTEL1):c.1207+1G>A (rs1555903332)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000503881 SCV000596862 pathogenic Dyskeratosis congenita 2017-05-11 criteria provided, single submitter clinical testing
Godley laboratory, The University of Chicago RCV001172446 SCV001253206 pathogenic Acute myeloid leukemia 2020-05-16 criteria provided, single submitter clinical testing This heterozygous variant was found in germline in a patient with early greying and co-occurring AML and gastric DLBCL diagnosed at age 48. The telomere length in lymphocytes was below the 1st percentile. The following ACMG/AMP criteria were used: PVS1 (canonical splice site variant undergoing NMD), PS4_supporting, PM2.

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