Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
LDLR- |
RCV000238371 | SCV000295181 | likely benign | Hypercholesterolemia, familial, 1 | 2016-03-25 | criteria provided, single submitter | literature only | |
Department of Human Genetics, |
RCV000238371 | SCV000987018 | likely benign | Hypercholesterolemia, familial, 1 | 2019-02-08 | criteria provided, single submitter | clinical testing | Due to the current estimates of databases (LOVD 3), this variant is classified as likely benign. |
Fulgent Genetics, |
RCV000238371 | SCV002795885 | likely benign | Hypercholesterolemia, familial, 1 | 2022-05-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002518482 | SCV003476113 | benign | Familial hypercholesterolemia | 2023-07-17 | criteria provided, single submitter | clinical testing | |
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, |
RCV000238371 | SCV000606307 | benign | Hypercholesterolemia, familial, 1 | no assertion criteria provided | research |