Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000525049 | SCV000626837 | likely benign | Wilson disease | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV001509446 | SCV001716172 | uncertain significance | not provided | 2020-12-02 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000525049 | SCV001977167 | likely benign | Wilson disease | 2021-08-10 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000525049 | SCV004565161 | uncertain significance | Wilson disease | 2023-06-20 | criteria provided, single submitter | clinical testing | The ATP7B c.2174G>A; p.Arg725Lys variant (rs115227204), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 456551). This variant is found in the African/African-American population with an allele frequency of 0.3% (63/24202 alleles) in the Genome Aggregation Database. Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.158). Due to limited information, the clinical significance of this variant is uncertain at this time. |