ClinVar Miner

Submissions for variant NM_003850.3(SUCLA2):c.815A>T (p.Asp272Val)

dbSNP: rs1555256440
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000625832 SCV000746394 pathogenic Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 2017-12-03 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000625832 SCV003818136 uncertain significance Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 2022-06-01 criteria provided, single submitter clinical testing

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