Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000123468 | SCV000166805 | benign | not specified | 2013-04-30 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Center for Pediatric Genomic Medicine, |
RCV000224779 | SCV000280835 | likely benign | not provided | 2015-06-02 | criteria provided, single submitter | clinical testing | Converted during submission to Likely benign. |
Invitae | RCV000224779 | SCV001113761 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001146901 | SCV001307665 | benign | Acyl-CoA dehydrogenase 9 deficiency | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000123468 | SCV002548474 | likely benign | not specified | 2022-05-03 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV001146901 | SCV002802330 | likely benign | Acyl-CoA dehydrogenase 9 deficiency | 2021-08-17 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001146901 | SCV003799358 | benign | Acyl-CoA dehydrogenase 9 deficiency | 2023-10-26 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000224779 | SCV004155487 | benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | ACAD9: BS1, BS2 |
Prevention |
RCV003915228 | SCV004746019 | benign | ACAD9-related condition | 2020-06-29 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Natera, |
RCV001146901 | SCV002081438 | benign | Acyl-CoA dehydrogenase 9 deficiency | 2019-12-16 | no assertion criteria provided | clinical testing |