ClinVar Miner

Submissions for variant NM_032380.5(GFM2):c.636del (p.Glu213fs)

dbSNP: rs746538436
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wellcome Centre for Mitochondrial Research, Newcastle University RCV000515499 SCV000605920 pathogenic Mitochondrial disease 2017-09-15 no assertion criteria provided clinical testing
OMIM RCV000767876 SCV000898489 pathogenic Combined oxidative phosphorylation deficiency 39 2019-04-19 no assertion criteria provided literature only

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