Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000145255 | SCV000192315 | pathogenic | Wilson disease | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000590476 | SCV000694409 | uncertain significance | not provided | 2017-04-13 | criteria provided, single submitter | clinical testing | Variant summary: The ATP7B c.1969A>C (p.Ser657Arg) variant involves the alteration of a conserved nucleotide. 5/5 in silico tools predict a damaging outcome for this variant. This variant was found in 3/118565 control chromosomes at a frequency of 0.0000253, which does not exceed the estimated maximal expected allele frequency of a pathogenic ATP7B variant (0.0054006). This variant has been reported in three unrelated patients with Wilson disease (Davies_2008). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic without evidence for independent review. Taken together, this variant is classified as VUS-possibly pathogenic. |
Genome- |
RCV000145255 | SCV001977176 | uncertain significance | Wilson disease | 2021-08-10 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000145255 | SCV001463841 | uncertain significance | Wilson disease | 2020-09-16 | no assertion criteria provided | clinical testing |