ClinVar Miner

Submissions for variant NC_012920.1:m.8570T>C

dbSNP: rs2068710214
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV001078191 SCV001244276 likely pathogenic Failure to thrive; Anemia; Acidosis; Increased circulating lactate concentration 2019-12-09 criteria provided, single submitter clinical testing

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