ClinVar Miner

Submissions for variant NC_012920.1(MT-ATP6):m.9101T>C

dbSNP: rs199476134
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Total submissions: 3
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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 RCV000854439 SCV000997474 benign Leigh syndrome 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.9101T>C (YP_003024031.1:p.Ile192Thr) variant in MTATP6 gene is interpretated to be a Benign variant based on the modified ACMG guidelines (unpublished).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 RCV000010277 SCV000030501 pathogenic Leber optic atrophy 1995-05-01 no assertion criteria provided literature only
GeneReviews RCV000010277 SCV000086641 not provided Leber optic atrophy no assertion provided literature only

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