ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1312+16T>A

gnomAD frequency: 0.00003  dbSNP: rs376965806
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409080 SCV000489549 likely benign Familial adenomatous polyposis 1 2016-10-19 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000771224 SCV000903318 likely benign Hereditary cancer-predisposing syndrome 2018-04-25 criteria provided, single submitter clinical testing
Invitae RCV003766140 SCV002452313 likely benign Familial adenomatous polyposis 1 2024-01-16 criteria provided, single submitter clinical testing

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