Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001336364 | SCV001529727 | uncertain significance | MEGF8-related Carpenter syndrome | 2018-07-31 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Invitae | RCV001336364 | SCV001610175 | likely benign | MEGF8-related Carpenter syndrome | 2023-11-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000983921 | SCV001988081 | uncertain significance | not provided | 2021-01-27 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |