ClinVar Miner

Submissions for variant NM_000038.6(APC):c.7533C>T (p.Leu2511=)

gnomAD frequency: 0.00001  dbSNP: rs1057522957
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000425380 SCV000530132 likely benign not specified 2016-07-18 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003477928 SCV000600151 likely benign not provided 2023-03-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000566292 SCV000672552 likely benign Hereditary cancer-predisposing syndrome 2016-03-30 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.
Counsyl RCV000663254 SCV000786479 likely benign Familial adenomatous polyposis 1 2018-05-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000663254 SCV001125409 likely benign Familial adenomatous polyposis 1 2024-04-03 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000663254 SCV004019800 benign Familial adenomatous polyposis 1 2023-02-15 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.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000425380 SCV005873278 likely benign not specified 2025-03-04 criteria provided, single submitter clinical testing

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