ClinVar Miner

Submissions for variant NM_000038.6(APC):c.933+16A>G

gnomAD frequency: 0.00003  dbSNP: rs1057517599
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411277 SCV000489316 likely benign Familial adenomatous polyposis 1 2016-09-16 criteria provided, single submitter clinical testing
GeneDx RCV000434027 SCV000512060 likely benign not specified 2016-05-05 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 RCV000579549 SCV000681938 likely benign Hereditary cancer-predisposing syndrome 2016-09-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000411277 SCV002383583 likely benign Familial adenomatous polyposis 1 2024-12-27 criteria provided, single submitter clinical testing

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