ClinVar Miner

Submissions for variant NM_000038.6(APC):c.422+19G>C

gnomAD frequency: 0.00001  dbSNP: rs767046355
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411339 SCV000489207 likely benign Familial adenomatous polyposis 1 2016-09-02 criteria provided, single submitter clinical testing
GeneDx RCV000442743 SCV000517350 likely benign not specified 2017-04-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Diagnostics, LLC DBA Color Health RCV000775119 SCV000909228 likely benign Hereditary cancer-predisposing syndrome 2018-07-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000411339 SCV002456609 likely benign Familial adenomatous polyposis 1 2024-12-29 criteria provided, single submitter clinical testing

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