ClinVar Miner

Submissions for variant m.4640C>A

dbSNP: rs387906426
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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 RCV000853787 SCV000996820 benign Leigh syndrome 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.4640C>A (YP_003024027.1:p.Ile57Met) variant in MTND2 gene is interpretated to be a Benign variant based on the modified ACMG guidelines (unpublished).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 RCV000010366 SCV000030592 pathogenic Leber optic atrophy 2001-07-01 no assertion criteria provided literature only
GeneReviews RCV000010366 SCV000086639 not provided Leber optic atrophy no assertion provided literature only

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