Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001034438 | SCV001197792 | likely benign | Mitochondrial trifunctional protein deficiency; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001726418 | SCV001962235 | uncertain significance | not provided | 2021-09-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002552059 | SCV003737417 | uncertain significance | Inborn genetic diseases | 2022-07-19 | criteria provided, single submitter | clinical testing | The c.80G>T (p.R27L) alteration is located in exon 2 (coding exon 2) of the HADHA gene. This alteration results from a G to T substitution at nucleotide position 80, causing the arginine (R) at amino acid position 27 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001271667 | SCV001452970 | uncertain significance | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | 2020-02-13 | no assertion criteria provided | clinical testing |