ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel - Submitter

ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel (ClinGen), ClinGen FH VCEP

General information

ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel, ClinGen FH VCEP
ClinGen
Bethesda
Maryland
United States - 20892
https://clinicalgenome.org/affiliation/50004/
Organization ID: 508055

Personnel

Christina Ford, Coordinator
Phone: 919-111-1111
Email: cgford@unc.edu
Carolyn McCormick, Coordinator
Phone: 919-111-1111
Email: carolyn_mccormick@med.unc.edu

Assertion criteria

Level: Expert Panel

ClinGen FH ACMG Specifications v1-1
ClinGen FH ACMG Specifications v1-2
ClinGen FH ACMG Specifications v1-2

Summary of submissions to ClinVar

Total submissions: 338

Gene

Gene	Submissions	Last Updated
LDLR	338	Jul 28, 2023
LDLR-AS1	26	Jul 28, 2023
MIR6886	3	Jul 28, 2023

Condition

Name	Submissions	Last Updated
Hypercholesterolemia, familial, 1	338	Jul 28, 2023

ClinVar

Relating variation to medicine