Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000403150 | SCV000344973 | uncertain significance | not provided | 2016-09-20 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000403150 | SCV001151792 | uncertain significance | not provided | 2018-03-01 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001332798 | SCV001525213 | uncertain significance | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | 2020-12-07 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Mayo Clinic Laboratories, |
RCV000403150 | SCV001712984 | uncertain significance | not provided | 2019-05-20 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000403150 | SCV001738927 | uncertain significance | not provided | 2021-09-13 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV000403150 | SCV002297546 | likely benign | not provided | 2023-11-19 | criteria provided, single submitter | clinical testing |