ClinVar Miner

Submissions for variant NM_001127511.3(APC):c.48T>C (p.Ser16=)

gnomAD frequency: 0.00002  dbSNP: rs980704771
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409172 SCV000489586 likely benign Familial adenomatous polyposis 1 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV003650580 SCV000647308 likely benign Familial adenomatous polyposis 1 2024-01-05 criteria provided, single submitter clinical testing

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