ClinVar Miner

Submissions for variant NM_000038.6(APC):c.5541G>A (p.Thr1847=)

gnomAD frequency: 0.00001  dbSNP: rs777449060
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003766635 SCV000562580 likely benign Familial adenomatous polyposis 1 2023-12-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV001024250 SCV001186233 likely benign Hereditary cancer-predisposing syndrome 2018-12-20 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Color Diagnostics, LLC DBA Color Health RCV001024250 SCV001353230 likely benign Hereditary cancer-predisposing syndrome 2018-10-24 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003153656 SCV004015702 likely benign Familial adenomatous polyposis 1 2023-07-07 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003736786 SCV004563126 likely benign not provided 2023-01-24 criteria provided, single submitter clinical testing

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