Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000995170 | SCV001149205 | likely pathogenic | not provided | 2018-05-01 | criteria provided, single submitter | clinical testing | |
3billion | RCV002051906 | SCV002318714 | pathogenic | Brain-lung-thyroid syndrome | 2022-03-22 | criteria provided, single submitter | clinical testing | Frameshift: predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. This variant has been reported as pathogenic (ClinVar ID: VCV000807109, PMID:30746413). The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.0000043). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. |
Molecular Diagnostics Lab, |
RCV002051906 | SCV003935971 | pathogenic | Brain-lung-thyroid syndrome | 2020-03-20 | criteria provided, single submitter | clinical testing |