ClinVar Miner

Submissions for variant NC_012920.1(MT-ND4):m.12014C>T

dbSNP: rs1603223511
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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 RCV000854766 SCV000997810 likely benign Leigh syndrome 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.12014C>T (YP_003024035.1:p.Leu419Phe) variant in MTND4 gene is interpretated to be a Likely Benign variant based on the modified ACMG guidelines (unpublished).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
Clinical Genetics Laboratory, Skane University Hospital Lund RCV004697016 SCV005199266 likely benign not provided 2023-07-20 criteria provided, single submitter clinical testing

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