Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001042460 | SCV001206141 | likely benign | not provided | 2023-12-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002552508 | SCV003679462 | uncertain significance | Inborn genetic diseases | 2021-08-12 | criteria provided, single submitter | clinical testing | The c.44T>C (p.L15P) alteration is located in exon 1 (coding exon 1) of the CYP4V2 gene. This alteration results from a T to C substitution at nucleotide position 44, causing the leucine (L) at amino acid position 15 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |