ClinVar Miner

Submissions for variant NC_012920.1(MT-ND4):m.11696G>A

dbSNP: rs200873900
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Total submissions: 3
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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 RCV000854742 SCV000997784 benign Leigh syndrome 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.11696G>A (YP_003024035.1:p.Val313Ile) variant in MTND4 gene is interpretated to be a Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: BA1
OMIM RCV000010356 SCV000030582 pathogenic Leber optic atrophy and dystonia 2003-04-22 no assertion criteria provided literature only
GeneReviews RCV000055697 SCV000086615 not provided Leber optic atrophy no assertion provided literature only

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