ClinVar Miner

Submissions for variant NC_012920.1(MT-TW):m.5532G>A

dbSNP: rs199474674
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002247284 SCV002517739 pathogenic MELAS syndrome 2022-05-04 criteria provided, single submitter clinical testing
OMIM RCV000010167 SCV000030388 pathogenic Neurogastrointestinal syndrome, mitochondrial 2004-06-01 no assertion criteria provided literature only

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