ClinVar Miner

Submissions for variant NM_015627.3(LDLRAP1):c.42C>T (p.Ser14=)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002331864 SCV002629717 likely benign Cardiovascular phenotype 2021-06-01 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003094635 SCV003481010 likely benign Hypercholesterolemia, familial, 4 2022-10-06 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003094635 SCV004172947 likely benign Hypercholesterolemia, familial, 4 2023-04-11 criteria provided, single submitter clinical testing

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