ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.42G>A (p.Ala14=)

dbSNP: rs1446469999
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Total submissions: 3
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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 RCV001779444 SCV002014821 likely benign not specified 2021-10-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002329751 SCV002631100 likely benign Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2021-09-27 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.
Invitae RCV002541100 SCV003472866 likely benign not provided 2024-01-25 criteria provided, single submitter clinical testing

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