ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.2121T>C (p.Ile707=)

gnomAD frequency: 0.00001  dbSNP: rs764657974
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001703714 SCV000522466 likely benign not provided 2018-05-03 criteria provided, single submitter clinical testing
Invitae RCV000474382 SCV000557386 likely benign Hereditary diffuse gastric adenocarcinoma 2024-01-13 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000774773 SCV000908754 likely benign Hereditary cancer-predisposing syndrome 2017-12-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000774773 SCV001175240 likely benign Hereditary cancer-predisposing syndrome 2019-05-06 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000421148 SCV001469746 benign not specified 2020-07-10 criteria provided, single submitter clinical testing

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