Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000732237 | SCV000860160 | uncertain significance | not provided | 2018-03-13 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000732237 | SCV003827309 | uncertain significance | not provided | 2021-03-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000732237 | SCV003929753 | uncertain significance | not provided | 2023-05-19 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 23975875) |