ClinVar Miner

Submissions for variant NM_000038.6(APC):c.288T>C (p.Tyr96=)

gnomAD frequency: 0.00002  dbSNP: rs376213437
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165334 SCV000216057 likely benign Hereditary cancer-predisposing syndrome 2014-08-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003765028 SCV000260590 likely benign Familial adenomatous polyposis 1 2025-01-01 criteria provided, single submitter clinical testing
GeneDx RCV001704202 SCV000512059 likely benign not provided 2019-03-13 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001704202 SCV000600069 benign not provided 2021-04-22 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000165334 SCV000681560 likely benign Hereditary cancer-predisposing syndrome 2016-06-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000427257 SCV001361053 likely benign not specified 2020-01-31 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000165334 SCV002530680 likely benign Hereditary cancer-predisposing syndrome 2022-01-10 criteria provided, single submitter curation
Myriad Genetics, Inc. RCV003765028 SCV004931780 benign Familial adenomatous polyposis 1 2024-02-22 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.

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