ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.694+25C>T

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel RCV000238457 SCV004022451 uncertain significance Hypercholesterolemia, familial, 1 2023-04-28 reviewed by expert panel curation The NM_000527.5(LDLR):c.694+25C>T variant is classified as Uncertain significance - insufficient evidence for Familial Hypercholesterolemia by applying evidence code BP4 as defined by the ClinGen Familial Hypercholesterolemia Expert Panel LDLR-specific variant curation guidelines (https://doi.org/10.1016/j.gim.2021.09.012). The supporting evidence is as follows: BP4: The variant is not predicted to affect the splicing process by SpliceAI. So, BP4 is met.
LDLR-LOVD, British Heart Foundation RCV000238457 SCV000294922 likely benign Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Invitae RCV000858461 SCV000556783 benign Familial hypercholesterolemia 2023-11-13 criteria provided, single submitter clinical testing
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000238457 SCV000588514 uncertain significance Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
GeneDx RCV000606160 SCV000730506 likely benign not specified 2018-01-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Clinical Genetics, Academic Medical Center RCV001699250 SCV001918531 likely benign not provided no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001699250 SCV001962779 likely benign not provided no assertion criteria provided clinical testing
Natera, Inc. RCV000858461 SCV002086385 likely benign Familial hypercholesterolemia 2019-11-09 no assertion criteria provided clinical testing

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