ClinVar Miner

Submissions for variant NC_012920.1(MT-CO1):m.6261G>A (rs201262114)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224375 SCV000281511 likely benign not provided 2015-06-15 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000853953 SCV000996986 benign Leigh syndrome 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.6261G>A (YP_003024028.1:p.Ala120Thr) variant in MTCO1 gene is interpretated to be a Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: BA1
Athena Diagnostics Inc RCV000224375 SCV001144555 benign not provided 2019-04-16 criteria provided, single submitter clinical testing

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