ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1026C>T (p.Asp342=)

dbSNP: rs780563386
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000869553 SCV001010990 likely benign Familial hypercholesterolemia 2024-01-25 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000869553 SCV001735427 likely benign Familial hypercholesterolemia 2021-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002381965 SCV002694316 likely benign Cardiovascular phenotype 2022-10-21 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Natera, Inc. RCV000869553 SCV001460264 likely benign Familial hypercholesterolemia 2020-09-16 no assertion criteria provided clinical testing

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