ClinVar Miner

Submissions for variant NC_012920.1(MT-ND1):m.4058C>T

dbSNP: rs1603219282
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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 RCV000853728 SCV000996760 likely benign Leigh syndrome 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.4058C>T (YP_003024026.1:p.Ser251Phe) variant in MTND1 gene is interpretated to be a Likely Benign variant based on the modified ACMG guidelines (unpublished).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

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