Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001280012 | SCV001609331 | likely benign | Wilson disease | 2024-01-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002282508 | SCV002571583 | uncertain significance | not provided | 2023-04-04 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 32579932) |
ARUP Laboratories, |
RCV001280012 | SCV004564415 | uncertain significance | Wilson disease | 2023-03-06 | criteria provided, single submitter | clinical testing | The ATP7B c.1687G>A; p.Asp563Asn variant (rs199875471), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 991746). This variant is found in the African population with an allele frequency of 0.17% (40/24,200 alleles) in the Genome Aggregation Database. The aspartate at codon 563 is weakly conserved, and computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.361). Due to limited information, the clinical significance of the p.Asp563Asn variant is uncertain at this time. |
Natera, |
RCV001280012 | SCV001467158 | uncertain significance | Wilson disease | 2020-04-15 | no assertion criteria provided | clinical testing |