ClinVar Miner

Submissions for variant NC_000016.9:g.(?_14725823)_(14643928_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Godley laboratory, The University of Chicago RCV001250777 SCV001422441 pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 2020-05-18 criteria provided, single submitter clinical testing This heterozygous deletion of exons 1-21 of PARN was found in germline in a patient with ILD/UIP and constrictive bronchiolitis diagnosed at age 61. The variant segregates with disease (ILD) in eight family members. The following ACMG/AMP criteria were used: PVS1, PS4_supporting, PM2, PP1_strong.

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