ClinVar Miner

Submissions for variant m.14325T>C

dbSNP: rs397515505
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Total submissions: 2
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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 RCV000855092 SCV000998139 benign Leigh syndrome 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.14325T>C (YP_003024037.1:p.Asn117Asp) variant in MTND6 gene is interpretated to be a Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: BS2, BS4
GeneReviews RCV000055700 SCV000086621 not provided Leber optic atrophy no assertion provided literature only

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