ClinVar Miner

Submissions for variant NM_000038.6(APC):c.5208A>G (p.Lys1736=)

dbSNP: rs757577924
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000827461 SCV000969111 likely benign not provided 2018-05-18 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003768575 SCV004638046 likely benign Familial adenomatous polyposis 1 2023-05-31 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV003768575 SCV005082889 benign Familial adenomatous polyposis 1 2024-04-01 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.

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