Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002357908 | SCV002657136 | uncertain significance | Cardiovascular phenotype | 2024-06-07 | criteria provided, single submitter | clinical testing | The c.1213C>A (p.P405T) alteration is located in exon 10 (coding exon 10) of the APOB gene. This alteration results from a C to A substitution at nucleotide position 1213, causing the proline (P) at amino acid position 405 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Labcorp Genetics |
RCV003098091 | SCV003231270 | likely benign | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2024-01-22 | criteria provided, single submitter | clinical testing |