ClinVar Miner

Submissions for variant NM_018116.4(MSTO1):c.422-3C>G

dbSNP: rs2148988026
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV002222328 SCV002499641 uncertain significance Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome criteria provided, single submitter clinical testing

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