ClinVar Miner

Submissions for variant NC_012920.1(MT-ND4):m.11621_11622del

dbSNP: rs1603223363
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Total submissions: 1
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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 RCV000854739 SCV000997781 likely pathogenic Leigh syndrome 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.11621_11622delTA (YP_003024035.1:p.Tyr288LeufsX59) variant in MTND4 gene is interpretated to be a Likely Pathogenic variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: PS6, PM8, PP6, PP7

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