ClinVar Miner

Submissions for variant NM_005883.3(APC2):c.4557G>A (p.Pro1519=)

gnomAD frequency: 0.00061  dbSNP: rs111280997
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000898670 SCV001042892 likely benign not provided 2024-12-06 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000898670 SCV003826853 uncertain significance not provided 2022-08-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000898670 SCV004139080 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing APC2: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV000898670 SCV005210094 likely benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000898670 SCV001978141 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000898670 SCV001980129 likely benign not provided no assertion criteria provided clinical testing

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