ClinVar Miner

Submissions for variant NC_012920.1(MT-ND1):m.4136A>G

dbSNP: rs199476121
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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 RCV000853739 SCV000996771 benign Leigh syndrome 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.4136A>G (YP_003024026.1:p.Tyr277Cys) variant in MTND1 gene is interpretated to be a Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV004713168 SCV005277493 benign not provided criteria provided, single submitter not provided
OMIM RCV000010378 SCV000030604 pathogenic Leber optic atrophy 1991-11-01 no assertion criteria provided literature only

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