ClinVar Miner

Submissions for variant NM_000038.6(APC):c.311C>A (p.Ser104Ter)

dbSNP: rs74953290
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV003337231 SCV004045410 pathogenic Familial adenomatous polyposis 1 2023-04-25 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.
Systems Biology Platform Zhejiang California International NanoSystems Institute RCV000073865 SCV000105458 cancer Familial colorectal cancer no assertion criteria provided not provided Converted during submission to other.

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