Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000863751 | SCV001004461 | likely benign | not provided | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002495237 | SCV002803303 | likely benign | Medulloblastoma; Familial dysautonomia | 2021-10-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003169104 | SCV003905059 | likely benign | Inborn genetic diseases | 2022-11-15 | 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 |
RCV003918356 | SCV004728073 | likely benign | ELP1-related condition | 2020-10-16 | 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). |
Natera, |
RCV001271565 | SCV001452824 | likely benign | Familial dysautonomia | 2020-09-16 | no assertion criteria provided | clinical testing |