Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000652047 | SCV000773913 | benign | Very long chain acyl-CoA dehydrogenase deficiency | 2021-12-18 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000652047 | SCV000799649 | uncertain significance | Very long chain acyl-CoA dehydrogenase deficiency | 2018-04-27 | criteria provided, single submitter | clinical testing | |
Wong Mito Lab, |
RCV000652047 | SCV001365167 | uncertain significance | Very long chain acyl-CoA dehydrogenase deficiency | 2019-11-01 | criteria provided, single submitter | clinical testing | The NM_000018.3:c.1678+23C>T (NP_000009.1:p.?) [GRCH38: NC_000017.11:g.7224575C>T] variant in ACADVL gene is interpretated to be Uncertain Significance based on ACMG guidelines (PMID: 25741868). This variant has been reported. This variant dose not meet any evidence codes reported in the ACMG guidelines. |
Baylor Genetics | RCV000652047 | SCV001526917 | uncertain significance | Very long chain acyl-CoA dehydrogenase deficiency | 2018-04-05 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Gene |
RCV001559679 | SCV001781962 | likely benign | not provided | 2019-08-27 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 27246109) |
Natera, |
RCV000652047 | SCV001455190 | uncertain significance | Very long chain acyl-CoA dehydrogenase deficiency | 2020-01-09 | no assertion criteria provided | clinical testing |