ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1744-19A>G

gnomAD frequency: 0.00002  dbSNP: rs762654419
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000443113 SCV000524904 likely benign not specified 2016-11-04 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 RCV000771554 SCV000904116 likely benign Hereditary cancer-predisposing syndrome 2018-03-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV004022384 SCV002400584 likely benign Familial adenomatous polyposis 1 2025-01-02 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004022384 SCV004931398 likely benign Familial adenomatous polyposis 1 2024-03-06 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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