ClinVar Miner

Submissions for variant NC_012920.1:m.5505A>G

dbSNP: rs1569484003
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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 RCV000853916 SCV000996949 uncertain significance Leigh syndrome 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.5505A>G (YP_003024027.1:p.Ile346Val) variant in MTND2 gene is interpretated to be a Uncertain Significance variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: BP4
GenomeConnect, ClinGen RCV000709825 SCV000840154 not provided not provided no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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