ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3510A>G (p.Lys1170=)

dbSNP: rs786203746
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000167182 SCV000218018 likely benign Hereditary cancer-predisposing syndrome 2014-12-15 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 RCV000167182 SCV000686939 likely benign Hereditary cancer-predisposing syndrome 2017-10-16 criteria provided, single submitter clinical testing
Invitae RCV003650437 SCV001674170 likely benign Familial adenomatous polyposis 1 2023-06-07 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003477636 SCV004222553 likely benign not provided 2023-06-03 criteria provided, single submitter clinical testing

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