ClinVar Miner

Submissions for variant NM_001151.4(SLC25A4):c.703C>G (p.Arg235Gly)

dbSNP: rs886041082
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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 RCV000491457 SCV000297810 pathogenic Mitochondrial disease 2016-08-06 no assertion criteria provided clinical testing
OMIM RCV000258874 SCV000328651 pathogenic Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant 2016-11-15 no assertion criteria provided literature only

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