Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000194601 | SCV000248520 | likely benign | not specified | 2019-07-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000886637 | SCV001030153 | likely benign | not provided | 2018-07-06 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001334816 | SCV001527780 | uncertain significance | Ataxia with oculomotor apraxia type 3 | 2018-02-26 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Ce |
RCV000886637 | SCV005041007 | likely benign | not provided | 2024-04-01 | criteria provided, single submitter | clinical testing | PIK3R5: BP4, BS2 |
Diagnostic Laboratory, |
RCV000886637 | SCV001742743 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000886637 | SCV001965264 | likely benign | not provided | no assertion criteria provided | clinical testing |