Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
LDLR- |
RCV000238243 | SCV000294666 | likely pathogenic | Hypercholesterolemia, familial, 1 | 2016-03-25 | criteria provided, single submitter | literature only | |
Laboratory for Molecular Medicine, |
RCV000455754 | SCV000539520 | uncertain significance | not specified | 2016-10-31 | criteria provided, single submitter | clinical testing | Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: This variant is in exon 4a of LDLR. It has been reported in one family with FH but was only present in the proband. It is present in ClinVar with 1 star as Likely Pathogenic by the British Heart Foundation (citing paper above). It is not present in ExAC. It has been seen as a somatic variant in one malignant melanoma tumor. |
Natera, |
RCV001833251 | SCV002086365 | uncertain significance | Familial hypercholesterolemia | 2020-02-25 | no assertion criteria provided | clinical testing |