ClinVar Miner

Submissions for variant NM_015627.3(LDLRAP1):c.748-4C>A

gnomAD frequency: 0.00006  dbSNP: rs370633185
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000866306 SCV001007384 likely benign Hypercholesterolemia, familial, 4 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV002279573 SCV002567493 likely benign not provided 2021-03-26 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Ambry Genetics RCV003307606 SCV003989609 benign Cardiovascular phenotype 2023-04-12 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Genome-Nilou Lab RCV000866306 SCV004172568 benign Hypercholesterolemia, familial, 4 2023-04-11 criteria provided, single submitter clinical testing

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