ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.408A>G (p.Gln136=)

dbSNP: rs1060501229
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000468489 SCV000545415 likely benign Hereditary diffuse gastric adenocarcinoma 2023-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000566934 SCV000668994 likely benign Hereditary cancer-predisposing syndrome 2015-09-09 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.
Color Diagnostics, LLC DBA Color Health RCV000566934 SCV000689535 likely benign Hereditary cancer-predisposing syndrome 2020-09-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000679576 SCV000806671 uncertain significance not provided 2017-04-19 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000780097 SCV000917138 likely benign not specified 2019-08-28 criteria provided, single submitter clinical testing
GeneDx RCV000679576 SCV001944112 benign not provided 2015-07-05 criteria provided, single submitter clinical testing

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