ClinVar Miner

Submissions for variant NM_001382430.1(AKT1):c.567+14G>A

gnomAD frequency: 0.01364  dbSNP: rs3730345
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001546715 SCV001766283 likely benign not provided 2019-04-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002072003 SCV002410456 benign Cowden syndrome 6 2025-01-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001546715 SCV005211555 likely benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579332 SCV001806833 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001579332 SCV001972256 benign not specified no assertion criteria provided clinical testing

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