Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV001817787 | SCV002069198 | likely pathogenic | not provided | 2018-06-26 | criteria provided, single submitter | clinical testing | DNA sequence analysis of the SH2D1A gene demonstrated a sequence change located near the canonical splice donor site in intron 2, c.201+3A>G. This variant is not present as a benign sequence change in large population databases (ESP, ExAC).? This variant has been reported in one patient with X-linked lymphoproliferative disorder (Tabata et al, 2005), where? the variant was shown to result in abnormal splicing of the SH2D1A gene and premature termination of the SH2D1A protein. |
Genome Diagnostics Laboratory, |
RCV002264391 | SCV002542940 | likely pathogenic | Autoinflammatory syndrome | 2019-07-01 | criteria provided, single submitter | clinical testing |