ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.67+18C>A

gnomAD frequency: 0.00319  dbSNP: rs17242759
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224100 SCV000281349 benign not provided 2015-08-25 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000581526 SCV000689780 benign Hypercholesterolemia, familial, 1 2017-07-06 criteria provided, single submitter clinical testing
GeneDx RCV000616083 SCV000730502 benign not specified 2017-07-10 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.
Invitae RCV001519057 SCV001727860 benign Familial hypercholesterolemia 2024-02-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000224100 SCV002048971 benign not provided 2023-11-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002365168 SCV002666722 benign Cardiovascular phenotype 2015-11-18 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000224100 SCV004219993 likely benign not provided 2015-09-04 criteria provided, single submitter clinical testing
GENinCode PLC RCV001519057 SCV005074010 benign Familial hypercholesterolemia 2022-11-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001519057 SCV002086355 likely benign Familial hypercholesterolemia 2019-10-29 no assertion criteria provided clinical testing

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