ClinVar Miner

Submissions for variant NM_000038.6(APC):c.532-17A>T

gnomAD frequency: 0.00005  dbSNP: rs997606437
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000408966 SCV000489294 likely benign Familial adenomatous polyposis 1 2016-09-13 criteria provided, single submitter clinical testing
GeneDx RCV000439871 SCV000523982 likely benign not specified 2017-11-15 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 RCV000580653 SCV000681731 likely benign Hereditary cancer-predisposing syndrome 2017-02-24 criteria provided, single submitter clinical testing
Invitae RCV003316513 SCV002365676 likely benign Familial adenomatous polyposis 1 2024-01-30 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV003316513 SCV004018152 likely benign Familial adenomatous polyposis 1 2023-02-14 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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