ClinVar Miner

Submissions for variant NM_006164.5(NFE2L2):c.925C>T (p.Leu309Phe)

gnomAD frequency: 0.00166  dbSNP: rs141363120
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000882311 SCV001025541 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000882311 SCV004150147 benign not provided 2023-10-01 criteria provided, single submitter clinical testing NFE2L2: BP4, BS1, BS2
ITMI RCV000121654 SCV000085852 not provided not specified 2013-09-19 no assertion provided reference population

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