ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.1324T>C (p.Leu442=)

dbSNP: rs1555516075
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000567585 SCV000661650 likely benign Hereditary cancer-predisposing syndrome 2016-06-01 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000924568 SCV001070082 likely benign Hereditary diffuse gastric adenocarcinoma 2019-08-22 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000567585 SCV004360478 likely benign Hereditary cancer-predisposing syndrome 2022-09-12 criteria provided, single submitter clinical testing

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