Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000965846 | SCV001113128 | likely benign | Carnitine palmitoyl transferase 1A deficiency | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001593152 | SCV001816572 | uncertain significance | not provided | 2023-12-08 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV004973209 | SCV005566641 | likely benign | Inborn genetic diseases | 2024-09-09 | 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. |
Natera, |
RCV000965846 | SCV001457995 | uncertain significance | Carnitine palmitoyl transferase 1A deficiency | 2020-04-16 | no assertion criteria provided | clinical testing | |
Prevention |
RCV003943146 | SCV004766448 | likely benign | CPT1A-related disorder | 2022-10-12 | no assertion criteria provided | 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). |