ClinVar Miner

Submissions for variant NM_004208.4(AIFM1):c.923G>A (p.Gly308Glu)

dbSNP: rs1603224226
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000907842 SCV001052571 pathogenic Severe X-linked mitochondrial encephalomyopathy 2019-12-10 no assertion criteria provided literature only
Inherited Neuropathy Consortium Ii, University Of Miami RCV003311910 SCV004011921 uncertain significance Charcot-Marie-Tooth disease X-linked recessive 4 2016-01-06 no assertion criteria provided literature only

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