Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000334639 | SCV000342679 | uncertain significance | not provided | 2016-06-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002059241 | SCV002452878 | benign | Familial aplasia of the vermis; Orofaciodigital syndrome I | 2023-11-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004021254 | SCV002746453 | likely benign | Primary ciliary dyskinesia | 2017-03-13 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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 |
RCV003940056 | SCV004750291 | likely benign | OFD1-related condition | 2019-06-20 | 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). |