Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV001000886 | SCV001157968 | uncertain significance | not specified | 2018-11-15 | criteria provided, single submitter | clinical testing | The INF2 c.2765G>A; p.Arg922His variant (rs749197190), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found in the East Asian population with an allele frequency of 0.15% (29/19,504 alleles) in the Genome Aggregation Database. The arginine at codon 922 is weakly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. Due to limited information, the clinical significance of the p.Arg922His variant is uncertain at this time. |
Labcorp Genetics |
RCV001860500 | SCV002311432 | likely benign | Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E | 2023-08-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002434390 | SCV002750362 | likely benign | Inborn genetic diseases | 2022-05-03 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |