ClinVar Miner

Submissions for variant NC_012920.1(MT-ND2):m.4917A>G

dbSNP: rs28357980
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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 RCV000853834 SCV000996867 benign Leigh syndrome 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.4917A>G (YP_003024027.1:p.Asn150Asp) variant in MTND2 gene is interpretated to be a Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: BA1
OMIM RCV000010364 SCV000030590 uncertain significance Leber optic atrophy 2013-03-02 no assertion criteria provided literature only

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