Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001262156 | SCV001439926 | uncertain significance | Hypercholesterolemia, autosomal dominant, type B | 2019-01-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003258964 | SCV003977024 | uncertain significance | Inborn genetic diseases | 2023-05-25 | criteria provided, single submitter | clinical testing | The c.3069G>T (p.Q1023H) alteration is located in exon 20 (coding exon 20) of the APOB gene. This alteration results from a G to T substitution at nucleotide position 3069, causing the glutamine (Q) at amino acid position 1023 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Invitae | RCV003768384 | SCV004575753 | likely benign | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2023-11-15 | criteria provided, single submitter | clinical testing |