ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2736del (p.Leu912fs)

dbSNP: rs2533445617
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003327869 SCV004034570 likely pathogenic not provided 2023-09-05 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Myriad Genetics, Inc. RCV003336853 SCV004045678 pathogenic Familial adenomatous polyposis 1 2023-05-05 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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