Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000489248 | SCV000577464 | uncertain significance | not provided | 2021-05-19 | criteria provided, single submitter | clinical testing | 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 |
Baylor Genetics | RCV001331598 | SCV001523672 | uncertain significance | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | 2020-06-26 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Invitae | RCV000489248 | SCV004270294 | likely benign | not provided | 2022-11-28 | criteria provided, single submitter | clinical testing |