ClinVar Miner

Submissions for variant NM_001382430.1(AKT1):c.406G>A (p.Val136Met)

gnomAD frequency: 0.00015  dbSNP: rs778376616
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000231420 SCV000288821 likely benign Cowden syndrome 6 2023-12-06 criteria provided, single submitter clinical testing
Mendelics RCV000231420 SCV000838933 benign Cowden syndrome 6 2023-08-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003409350 SCV004135313 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing AKT1: BS2

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