Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000826056 | SCV000967550 | uncertain significance | not specified | 2018-08-13 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The p.Pro530Pro var iant in TERT has not been previously reported in individuals with short telomere syndromes or pulmonary fibrosis but has been identified in 1/11090 of European chromosomes by gnomAD (http://gnomad.broadinstitute.org). The variant does not a lter an amino acid residue and is not located within the splice consensus sequen ce. In summary, while the clinical significance of the p.Pro530Pro variant is un certain, its predicted impact suggests that it is more likely to be benign. ACMG /AMP Criteria applied: BP7, PM2. |
Invitae | RCV003768563 | SCV001659680 | likely benign | Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis | 2023-07-14 | criteria provided, single submitter | clinical testing |