ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1392T>C (p.His464=)

gnomAD frequency: 0.00004  dbSNP: rs1057524073
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000433646 SCV000534478 likely benign not specified 2016-11-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV003651835 SCV000647171 likely benign Familial adenomatous polyposis 1 2024-01-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000572795 SCV000667358 likely benign Hereditary cancer-predisposing syndrome 2015-01-16 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 RCV000572795 SCV000910390 likely benign Hereditary cancer-predisposing syndrome 2018-03-27 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000433646 SCV000918440 likely benign not specified 2019-08-20 criteria provided, single submitter clinical testing

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