ClinVar Miner

Submissions for variant m.12397A>G

dbSNP: rs1556424100
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000854803 SCV000997847 benign Leigh syndrome 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.12397A>G (YP_003024036.1:p.Thr21Ala) variant in MTND5 gene is interpretated to be a Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: BA1
OMIM RCV000010351 SCV000030577 risk factor Autosomal recessive early-onset Parkinson disease 6 2008-09-01 no assertion criteria provided literature only

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