Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Clin |
RCV000238481 | SCV007432528 | uncertain significance | Hypercholesterolemia, familial, 1 | 2025-03-24 | reviewed by expert panel | curation | The NM_000527.5(LDLR):c.1987+10G>T variant is classified as Uncertain significance - insufficient evidence for Familial Hypercholesterolemia by applying ACMG/AMP evidence codes PM2, PP4, PS4_Supporting and BP4 as defined by the ClinGen Familial Hypercholesterolemia Expert Panel LDLR-specific variant curation guidelines (specification version 1.2) on 24 March 2025. The supporting evidence is as follows: PM2: PopMax MAF = 0.00008220 (0.00822%) in Non-Finnish European (gnomAD v4.1.0). PS4_Supporting, PP4: Variant meets PM2 and is identified in 2 unrelated cases who fulfill Simon Broome criteria for possible FH from Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP.Sorbonne Université, Hôpital de la Pitié-Salpêtrière, France. BP4: No REVEL, splicing evaluation required. SpliceAI: acceptor loss = 0.01, donor loss = 0.04. Variant is not predicted to alter splicing. |
| Labcorp Genetics |
RCV001505338 | SCV001710236 | likely benign | Familial hypercholesterolemia | 2025-04-28 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV005238789 | SCV000697218 | likely benign | not specified | 2024-12-12 | criteria provided, single submitter | clinical testing | |
| LDLR- |
RCV000238481 | SCV000295795 | likely benign | Hypercholesterolemia, familial, 1 | 2016-03-25 | criteria provided, single submitter | research |