Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041239 | SCV000064930 | likely benign | not specified | 2013-01-15 | criteria provided, single submitter | clinical testing | Phe59Phe in Exon 02 of SPRED1: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and it is not located within the splice consensus sequence. |
Invitae | RCV000548315 | SCV000645817 | likely benign | Legius syndrome | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000041239 | SCV001437359 | likely benign | not specified | 2020-09-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001572486 | SCV001797139 | likely benign | not provided | 2019-06-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002408538 | SCV002714887 | likely benign | Cardiovascular phenotype | 2022-06-02 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |