ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.510A>G (p.Pro170=)

gnomAD frequency: 0.00002  dbSNP: rs774962542
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000196625 SCV000253424 likely benign Hereditary diffuse gastric adenocarcinoma 2023-12-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV000213982 SCV000274262 likely benign Hereditary cancer-predisposing syndrome 2015-02-27 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.
Counsyl RCV000196625 SCV000488618 likely benign Hereditary diffuse gastric adenocarcinoma 2016-05-10 criteria provided, single submitter clinical testing
GeneDx RCV000679577 SCV000515547 likely benign not provided 2019-01-11 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000418357 SCV000600992 likely benign not specified 2016-10-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000679577 SCV000806674 likely benign not provided 2017-12-05 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000213982 SCV000906521 likely benign Hereditary cancer-predisposing syndrome 2016-05-04 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000213982 SCV002529189 likely benign Hereditary cancer-predisposing syndrome 2021-05-17 criteria provided, single submitter curation
Myriad Genetics, Inc. RCV000196625 SCV004019532 benign Hereditary diffuse gastric adenocarcinoma 2023-03-03 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.

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