ClinVar Miner

Submissions for variant NM_000038.6(APC):c.221-11A>G

gnomAD frequency: 0.00001  dbSNP: rs531060253
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001720139 SCV000522234 likely benign not provided 2020-08-25 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000775116 SCV000909224 likely benign Hereditary cancer-predisposing syndrome 2018-05-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV004563330 SCV002421562 likely benign Familial adenomatous polyposis 1 2024-05-04 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000775116 SCV002536034 likely benign Hereditary cancer-predisposing syndrome 2021-04-21 criteria provided, single submitter curation
All of Us Research Program, National Institutes of Health RCV004000362 SCV004822010 likely benign Classic or attenuated familial adenomatous polyposis 2024-01-11 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004563330 SCV004932969 likely benign Familial adenomatous polyposis 1 2024-02-22 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.

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