ClinVar Miner

Submissions for variant NC_012920.1(MT-CO2):m.7674T>C

dbSNP: rs1569484168
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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 RCV000854085 SCV000997118 likely benign Leigh syndrome 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.7674T>C (YP_003024029.1:p.Ile30Thr) variant in MTCO2 gene is interpretated to be a Likely Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: BS1, BP4, BP5
GenomeConnect, ClinGen RCV001787119 SCV002029128 not provided not provided no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 05-04-2020 by Lab or GTR ID 26957. 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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