Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000909755 | SCV000721218 | likely benign | not provided | 2018-10-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000909755 | SCV001054577 | likely benign | not provided | 2023-11-25 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001335648 | SCV001528839 | uncertain significance | Pontocerebellar hypoplasia type 8 | 2018-07-19 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |