Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
LDLR- |
RCV000237905 | SCV000294403 | likely benign | Hypercholesterolemia, familial, 1 | 2016-03-25 | criteria provided, single submitter | literature only | |
Cardiovascular Research Group, |
RCV000237905 | SCV000322869 | benign | Hypercholesterolemia, familial, 1 | 2016-03-01 | criteria provided, single submitter | research | 0/190 non-FH alleles |
Color Diagnostics, |
RCV001186035 | SCV001352365 | likely benign | Familial hypercholesterolemia | 2017-09-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001186035 | SCV002322565 | likely benign | Familial hypercholesterolemia | 2023-08-30 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003947809 | SCV004758487 | likely benign | LDLR-related condition | 2019-12-27 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, |
RCV000237905 | SCV000605989 | uncertain significance | Hypercholesterolemia, familial, 1 | no assertion criteria provided | research |