ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2739T>C (p.His913=) (rs553363502)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165216 SCV000215930 likely benign Hereditary cancer-predisposing syndrome 2014-07-31 criteria provided, single submitter clinical testing
GeneDx RCV000421189 SCV000515496 likely benign not specified 2016-05-09 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.
Color RCV000165216 SCV000681548 likely benign Hereditary cancer-predisposing syndrome 2016-03-30 criteria provided, single submitter clinical testing
Invitae RCV000755821 SCV000768469 likely benign not provided 2018-06-12 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755821 SCV000883407 likely benign not provided 2017-12-03 criteria provided, single submitter clinical testing The APC c.2739T>C; p.His913His variant is not described in the medical literature or in gene-specific databases. The variant is listed in the ClinVar database (Variation ID: 185738), in the dbSNP variant database (rs553363502), and in the Genome Aggregation Database in 13/245854 alleles. This is a silent variant, the nucleotide at this position is not well conserved across species, and computational algorithms (SpliceSiteFinder-like, MaxEntScan, NNSplice, GeneSplicer, Human Splicing Finder) predict no change to splicing. Considering available information, this variant is classified as likely benign.

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