ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.1146G>A (p.Ser382=)

gnomAD frequency: 0.00001  dbSNP: rs751444145
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002066970 SCV002367069 likely benign not provided 2023-12-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002334229 SCV002618812 likely benign Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2022-05-07 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Rare Disease Group, Clinical Genetics, Karolinska Institutet RCV000735829 SCV000778869 uncertain significance Bladder exstrophy no assertion criteria provided research

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