ClinVar Miner

Submissions for variant NM_000038.6(APC):c.221-16T>C

gnomAD frequency: 0.00003  dbSNP: rs1046591128
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410932 SCV000489679 likely benign Familial adenomatous polyposis 1 2016-11-03 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001183272 SCV001348958 likely benign Hereditary cancer-predisposing syndrome 2018-12-03 criteria provided, single submitter clinical testing
Invitae RCV000410932 SCV002323634 likely benign Familial adenomatous polyposis 1 2023-12-31 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV002523894 SCV004019210 likely benign Familial adenomatous polyposis 1 2023-02-15 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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