ClinVar Miner

Submissions for variant m.3308T>G

dbSNP: rs28358582
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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 RCV000853629 SCV000996657 likely benign Leigh syndrome 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.3308T>G (YP_003024026.1:p.Met1?) variant in MTND1 gene is interpretated to be a Likely Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: BS4, BP5
OMIM RCV000010381 SCV000030607 pathogenic SUDDEN INFANT DEATH SYNDROME 1999-09-01 no assertion criteria provided literature only

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