ClinVar Miner

Submissions for variant NM_000038.6(APC):c.730-5A>G

dbSNP: rs1561514828
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003534626 SCV000822794 likely benign Familial adenomatous polyposis 1 2023-11-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV001026248 SCV001188592 likely benign Hereditary cancer-predisposing syndrome 2020-06-15 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 RCV001026248 SCV001736095 uncertain significance Hereditary cancer-predisposing syndrome 2021-01-26 criteria provided, single submitter clinical testing This variant causes an A to G nucleotide substitution at the -5 position of intron 7 of the APC gene. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Sema4, Sema4 RCV001026248 SCV002527568 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-16 criteria provided, single submitter curation

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