ClinVar Miner

Submissions for variant NM_001382430.1(AKT1):c.176-5C>T

dbSNP: rs377076374
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000706963 SCV000836039 likely benign Cowden syndrome 6 2023-11-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004692197 SCV005193600 uncertain significance not provided criteria provided, single submitter not provided

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