ClinVar Miner

Submissions for variant NC_012920.1(MT-ND1):m.4132G>A

dbSNP: rs1057520201
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000426885 SCV000511775 uncertain significance not provided 2016-07-12 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000853737 SCV000996769 likely benign Leigh syndrome 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.4132G>A (YP_003024026.1:p.Ala276Thr) variant in MTND1 gene is interpretated to be a Likely Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: BP4, BP6

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