ClinVar Miner

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

dbSNP: rs199474822
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Total submissions: 6
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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variant in MTCO1 gene is interpretated to be a Benign variant based on the modified ACMG guidelines (unpublished).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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268422 SCV001447349 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
OMIM RCV000010300 SCV000030403 pathogenic Aminoglycoside-induced deafness 2007-09-14 no assertion criteria provided literature only
OMIM RCV000010299 SCV000030523 pathogenic Leber optic atrophy 2005-10-01 no assertion criteria provided literature only
OMIM RCV000010301 SCV000030526 pathogenic Mitochondrial non-syndromic sensorineural hearing loss 2005-10-01 no assertion criteria provided literature only
GeneReviews RCV000010301 SCV000172234 not provided Mitochondrial non-syndromic sensorineural hearing loss no assertion provided literature only

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