ClinVar Miner

Submissions for variant NM_144772.3(NAXE):c.385C>G (p.Arg129Gly)

gnomAD frequency: 0.00001  dbSNP: rs747476913
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001330392 SCV001522058 uncertain significance Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 2019-11-22 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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