ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.819A>G (p.Glu273=)

dbSNP: rs1555515468
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000564275 SCV000669048 likely benign Hereditary cancer-predisposing syndrome 2016-10-10 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 RCV002060462 SCV002430476 likely benign Hereditary diffuse gastric adenocarcinoma 2021-04-17 criteria provided, single submitter clinical testing

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