Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV000756915 | SCV000884898 | uncertain significance | not provided | 2018-03-25 | criteria provided, single submitter | clinical testing | The WDR19 c.1030C>G; p.His344Asp variant (rs76599296), to our knowledge, is not reported in the medical literature, gene specific variation databases, nor has it been previously identified by our laboratory. This variant is listed in the genome Aggregation Database (gnomAD) with an African population frequency of 0.2% (identified on 40 out of 24,008 chromosomes, including one homozygote). The histidine at position 344 is moderately conserved, considering 12 species, and computational analyses of the effects of the p.His344Asp variant on protein structure and function make conflicting predictions (SIFT: tolerated, PolyPhen-2: possibly damaging). Based on the available information, the clinical significance of the p.His344Asp variant cannot be determined with certainty. |
Invitae | RCV001087115 | SCV001098677 | likely benign | Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002279517 | SCV002567151 | uncertain significance | Connective tissue disorder | 2022-02-10 | criteria provided, single submitter | clinical testing |