Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000342096 | SCV000341909 | benign | not specified | 2016-05-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000635390 | SCV000534348 | benign | not provided | 2020-07-13 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 24796702, 27858732, 33094863) |
Invitae | RCV001080472 | SCV000756800 | benign | GNE myopathy; Sialuria | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000635390 | SCV001144075 | likely benign | not provided | 2018-12-31 | criteria provided, single submitter | clinical testing | |
Laboratorio de Genetica e Diagnostico Molecular, |
RCV002252085 | SCV002523572 | benign | See cases | 2020-02-25 | criteria provided, single submitter | clinical testing | ACMG classification criteria: BS1, BS2 |
Fulgent Genetics, |
RCV001080472 | SCV002801032 | likely benign | GNE myopathy; Sialuria | 2021-11-23 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000635390 | SCV004157741 | benign | not provided | 2022-10-01 | criteria provided, single submitter | clinical testing | GNE: BS1, BS2 |