ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.351C>T (p.Pro117=)

gnomAD frequency: 0.00012  dbSNP: rs202066345
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001194290 SCV001363696 benign not specified 2019-08-09 criteria provided, single submitter clinical testing
Invitae RCV001514422 SCV001722263 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001813579 SCV002060545 benign Noonan syndrome and Noonan-related syndrome 2021-02-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002451405 SCV002613808 likely benign Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2020-08-13 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 RCV004545115 SCV004759331 likely benign LZTR1-related disorder 2022-01-21 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).

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