Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Godley laboratory, |
RCV001172443 | SCV001252841 | likely pathogenic | Dyskeratosis congenita, autosomal dominant 1 | 2020-05-21 | criteria provided, single submitter | clinical testing | This heterozygous variant was found in germline in a 31-year old male with chronic neutropenia and mildly reduced pulmonary diffusion capacity. Telomeres are at the 1st percentile in lymphocytes. The variant segregates in the patient's mother who has been diagnosed with aplastic anemia at the age of 40 and with ILD at the age of 60. |