ClinVar Miner

Submissions for variant NM_001382430.1(AKT1):c.1020C>T (p.Tyr340=)

gnomAD frequency: 0.00224  dbSNP: rs144088506
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000229592 SCV000288809 benign Cowden syndrome 6 2025-01-23 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001727648 SCV001157498 benign not provided 2020-02-27 criteria provided, single submitter clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV001727648 SCV002010393 likely benign not provided 2021-11-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002379002 SCV002671217 likely benign Inborn genetic diseases 2022-02-12 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV001727648 SCV004135309 likely benign not provided 2025-02-01 criteria provided, single submitter clinical testing AKT1: BP4, BP7, BS2
Breakthrough Genomics, Breakthrough Genomics RCV001727648 SCV005211553 likely benign not provided criteria provided, single submitter not provided
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000229592 SCV005880818 benign Cowden syndrome 6 2025-02-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579879 SCV001808829 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727648 SCV001971341 likely benign not provided no assertion criteria provided clinical testing

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