ClinVar Miner

Submissions for variant NM_002317.7(LOX):c.204C>T (p.Arg68=)

gnomAD frequency: 0.00294  dbSNP: rs201057539
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000966958 SCV001114324 benign not provided 2024-01-11 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002416 SCV001160352 benign Aortic aneurysm, familial thoracic 10 2019-03-14 criteria provided, single submitter clinical testing
GeneDx RCV000966958 SCV001801967 likely benign not provided 2021-04-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002416236 SCV002726528 likely benign Cardiovascular phenotype 2019-08-06 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003331009 SCV004039323 benign not specified 2023-08-24 criteria provided, single submitter clinical testing

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