ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.1521C>T (p.Ser507=)

dbSNP: rs149687235
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000615981 SCV000727847 likely benign not specified 2018-02-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Diagnostics, LLC DBA Color Health RCV001185307 SCV001351488 likely benign Hereditary cancer-predisposing syndrome 2019-07-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001421710 SCV001624240 likely benign Hereditary diffuse gastric adenocarcinoma 2023-12-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV001185307 SCV002705323 likely benign Hereditary cancer-predisposing syndrome 2020-08-05 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.

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