ClinVar Miner

Submissions for variant NC_012920.1(MT-CYB):m.15437G>A (rs878853058)

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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 RCV000224435 SCV000281175 uncertain significance not provided 2015-09-25 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Fulgent Genetics,Fulgent Genetics RCV000764855 SCV000896011 uncertain significance Leber's optic atrophy; Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 2018-10-31 criteria provided, single submitter clinical testing
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000855292 SCV000998342 uncertain significance Leigh syndrome 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.15437G>A (YP_003024038.1:p.Gly231Ser) variant in MTCYB gene is interpretated to be a Uncertain Significance variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: PM9, PP6, PP7

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