ClinVar Miner

Submissions for variant NC_012920.1:m.7444G>A (rs199474822)

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Total submissions: 5
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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 RCV000854073 SCV000997106 benign Leigh syndrome 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.7444G>A (YP_003024028.1:p.Ter514LysextX4) variant in MTCO1 gene is interpretated to be a Benign variant based on the modified ACMG guidelines (unpublished).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: BS1, BS2
OMIM RCV000010300 SCV000030403 pathogenic Aminoglycoside-induced deafness 2007-09-14 no assertion criteria provided literature only
OMIM RCV000010299 SCV000030523 pathogenic Leber's optic atrophy 2005-10-01 no assertion criteria provided literature only
OMIM RCV000010301 SCV000030526 pathogenic Deafness, nonsyndromic sensorineural, mitochondrial 2005-10-01 no assertion criteria provided literature only
GeneReviews RCV000010301 SCV000172234 pathogenic Deafness, nonsyndromic sensorineural, mitochondrial 2018-06-14 no assertion criteria provided literature only

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