ClinVar Miner

Submissions for variant NC_012920.1:m.7445A>G (rs199474818)

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Total submissions: 4
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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 RCV000850885 SCV000993119 pathogenic Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 2019-07-12 criteria provided, single submitter clinical testing The NC_012920.1:m.7445A>G variant in MT-TS1 gene is interpreted to be a Pathogenic variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes reported in the guidelines: PS3, PS5
OMIM RCV000010176 SCV000030397 pathogenic Keratoderma palmoplantar deafness 2001-01-01 no assertion criteria provided literature only
OMIM RCV000010177 SCV000030398 pathogenic Deafness, nonsyndromic sensorineural, mitochondrial 2001-01-01 no assertion criteria provided literature only
GeneReviews RCV000010177 SCV000172235 pathogenic Deafness, nonsyndromic sensorineural, mitochondrial 2018-06-14 no assertion criteria provided literature only

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