ClinVar Miner

Submissions for variant NM_002582.4(PARN):c.1006-2A>G

dbSNP: rs1469272825
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Godley laboratory, The University of Chicago RCV001090051 SCV001194309 likely pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 2020-04-06 criteria provided, single submitter clinical testing This heterozygous variant was found in germline in a proband with ILD/UIP diagnosed at age 49 and BM dyserythropoiesis diagnosed at age 54. Telomere length in lymphocytes were at the 10th percentile.
Genetic Services Laboratory, University of Chicago RCV001819799 SCV002069121 pathogenic not provided 2018-03-26 criteria provided, single submitter clinical testing

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