Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
LDLR- |
RCV000237837 | SCV000295226 | likely pathogenic | Hypercholesterolemia, familial, 1 | 2016-03-25 | criteria provided, single submitter | literature only | |
Gene |
RCV004591097 | SCV005079219 | uncertain significance | not provided | 2023-09-06 | criteria provided, single submitter | clinical testing | Has been reported in association with familial hypercholesterolemia (Yamakawa-Kobayashi et al., 1994); Not observed at significant frequency in large population cohorts (gnomAD); In-frame deletion of 4 amino acids and insertion of 3 amino acids in a non-repeat region; This variant is associated with the following publications: (PMID: 8005585) |