Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000865993 | SCV001007027 | likely benign | Capillary malformation-arteriovenous malformation syndrome | 2024-01-29 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001811521 | SCV002050034 | likely benign | not provided | 2021-01-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002381936 | SCV002689908 | likely benign | Cardiovascular phenotype | 2021-12-03 | 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. |
Prevention |
RCV003918376 | SCV004737049 | likely benign | RASA1-related condition | 2019-05-01 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |