ClinVar Miner

Submissions for variant NM_144772.3(NAXE):c.565G>A (p.Gly189Ser)

dbSNP: rs1677398842
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Genetics Laboratory, Tarbiat Modares University RCV001095389 SCV001198013 pathogenic Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 criteria provided, single submitter clinical testing Early-onset progressive encephalopathy with brain edema and leukoencephalopathy

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