ClinVar Miner

Submissions for variant NC_012920.1:m.8686T>C (rs1569484231)

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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 RCV000854289 SCV000997322 uncertain significance Leigh syndrome 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.8686T>C (YP_003024031.1:p.Ser54Pro) variant in MTATP6 gene is interpretated to be a Uncertain Significance variant based on the modified ACMG guidelines (unpublished).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 RCV000709918 SCV000840260 not provided Leber's optic atrophy; Neuropathy ataxia retinitis pigmentosa syndrome; Mitochondrial DNA-Associated Leigh Syndrome and NARP 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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