Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000649963 | SCV000771800 | likely benign | Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E | 2023-11-24 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001811421 | SCV001471698 | uncertain significance | not provided | 2020-02-10 | criteria provided, single submitter | clinical testing | The INF2 c.2989G>A; p.Asp997Asn variant (rs370719592), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 540041). This variant is found in the general population with an overall allele frequency of 0.01% (16/277120 alleles) in the Genome Aggregation Database. The aspartate at codon 997 is weakly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. However, due to limited information, the clinical significance of the p.Asp997Asn variant is uncertain at this time. |
Ambry Genetics | RCV002440353 | SCV002751450 | likely benign | Inborn genetic diseases | 2020-06-26 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |