ClinVar Miner

Submissions for variant NC_012920.1:m.11360A>G

dbSNP: rs878928689
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000626558 SCV000747259 uncertain significance Seizure 2017-01-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764854 SCV000896010 uncertain significance Leber optic atrophy 2018-10-31 criteria provided, single submitter clinical testing
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000854728 SCV000997770 uncertain significance Leigh syndrome 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.11360A>G (YP_003024035.1:p.Met201Val) variant in MTND4 gene is interpretated to be a Uncertain Significance variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: PP7, BP6

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