Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001725975 | SCV002287677 | likely benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Center for Genomics, |
RCV002055339 | SCV002495810 | uncertain significance | Autoinflammation, immune dysregulation, and eosinophilia | 2021-08-31 | criteria provided, single submitter | clinical testing | JAK1 NM_002227.4 exon 14 p.Val651Met (c.1951G>A): This variant has not been reported in the literature but is present in 0.1% (34/30580) of South Asian alleles, including 1 homozygote, in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/1-65312368-C-T?dataset=gnomad_r2_1). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |
Ce |
RCV001725975 | SCV004700363 | uncertain significance | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | |
ITMI | RCV000121231 | SCV000085402 | not provided | not specified | 2013-09-19 | no assertion provided | reference population | |
Diagnostic Laboratory, |
RCV001725975 | SCV001962840 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001725975 | SCV001970739 | likely benign | not provided | no assertion criteria provided | clinical testing |