ClinVar Miner

Submissions for variant NM_006164.5(NFE2L2):c.802G>A (p.Val268Met)

gnomAD frequency: 0.00263  dbSNP: rs34154613
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001521713 SCV001731104 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001521713 SCV004150148 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing NFE2L2: BP4, BS2
PreventionGenetics, part of Exact Sciences RCV003935166 SCV004756227 benign NFE2L2-related condition 2019-11-05 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
ITMI RCV000121656 SCV000085854 not provided not specified 2013-09-19 no assertion provided reference population

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