Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000159482 | SCV000209434 | uncertain significance | not provided | 2023-03-28 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV001323312 | SCV001514220 | likely benign | Mowat-Wilson syndrome | 2022-08-28 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001323312 | SCV001522267 | uncertain significance | Mowat-Wilson syndrome | 2019-03-29 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Genome- |
RCV001323312 | SCV002045621 | uncertain significance | Mowat-Wilson syndrome | 2021-11-07 | criteria provided, single submitter | clinical testing |