Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Fulgent Genetics, |
RCV002501002 | SCV002812854 | uncertain significance | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2021-09-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002534104 | SCV003666860 | uncertain significance | Inborn genetic diseases | 2022-12-16 | criteria provided, single submitter | clinical testing | The c.9815A>G (p.Y3272C) alteration is located in exon 26 (coding exon 26) of the APOB gene. This alteration results from a A to G substitution at nucleotide position 9815, causing the tyrosine (Y) at amino acid position 3272 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |