Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000180448 | SCV000232888 | uncertain significance | not provided | 2015-05-18 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000669720 | SCV000794499 | uncertain significance | Medium-chain acyl-coenzyme A dehydrogenase deficiency | 2017-09-27 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000669720 | SCV001560546 | pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency | 2023-12-28 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 8 of the ACADM gene. It does not directly change the encoded amino acid sequence of the ACADM protein. This variant is present in population databases (rs746483754, gnomAD 0.007%). This variant has been observed in individual(s) with medium-chain acyl-coenzyme A dehydrogenase deficiency (PMID: 20434380, 21083904; Invitae). This variant is also known as IVS8-13A>G. ClinVar contains an entry for this variant (Variation ID: 198979). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV000669720 | SCV004210680 | likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency | 2024-01-23 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000669720 | SCV002092849 | uncertain significance | Medium-chain acyl-coenzyme A dehydrogenase deficiency | 2017-12-01 | no assertion criteria provided | clinical testing |