ClinVar Miner

Submissions for variant NM_000038.6(APC):c.646-20G>A

gnomAD frequency: 0.00001  dbSNP: rs1057517635
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000408971 SCV000489692 likely benign Familial adenomatous polyposis 1 2016-11-07 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000775838 SCV000910306 likely benign Hereditary cancer-predisposing syndrome 2018-06-05 criteria provided, single submitter clinical testing
GeneDx RCV001535175 SCV001752166 benign not provided 2015-06-30 criteria provided, single submitter clinical testing
Invitae RCV003650581 SCV002440922 likely benign Familial adenomatous polyposis 1 2024-01-26 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV003316516 SCV004019734 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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