ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.543G>A (p.Thr181=)

gnomAD frequency: 0.00063  dbSNP: rs151294009
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000875613 SCV000727177 likely benign not provided 2021-05-07 criteria provided, single submitter clinical testing
Invitae RCV000875613 SCV001018058 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000615095 SCV001363701 benign not specified 2019-11-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000875613 SCV002585915 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing LZTR1: BP4, BP7
Ambry Genetics RCV002343144 SCV002648040 likely benign Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2022-12-14 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.
PreventionGenetics, part of Exact Sciences RCV004533240 SCV004734852 likely benign LZTR1-related disorder 2019-03-21 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000875613 SCV001960110 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000875613 SCV001970226 likely benign not provided no assertion criteria provided clinical testing

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