Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV003166603 | SCV003896735 | uncertain significance | Inborn genetic diseases | 2023-01-23 | criteria provided, single submitter | clinical testing | The c.893G>T (p.G298V) alteration is located in exon 9 (coding exon 8) of the CPT1A gene. This alteration results from a G to T substitution at nucleotide position 893, causing the glycine (G) at amino acid position 298 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001278064 | SCV001465057 | uncertain significance | Carnitine palmitoyl transferase 1A deficiency | 2020-04-16 | no assertion criteria provided | clinical testing |