Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000761790 | SCV000891985 | likely pathogenic | not provided | 2019-01-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002533880 | SCV003600548 | uncertain significance | Inborn genetic diseases | 2022-01-18 | criteria provided, single submitter | clinical testing | The c.1966C>G (p.H656D) alteration is located in exon 16 (coding exon 15) of the CPT1A gene. This alteration results from a C to G substitution at nucleotide position 1966, causing the histidine (H) at amino acid position 656 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |