ClinVar Miner

Submissions for variant m.3308T>C (rs28358582)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000239184 SCV000296845 likely benign not specified 2015-10-31 criteria provided, single submitter clinical testing
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000853627 SCV000996655 benign Leigh syndrome 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.3308T>C (YP_003024026.1:p.Met1Thr) variant in MTND1 gene is interpretated to be a Benign variant based on the modified ACMG guidelines (unpublished).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 RCV000010379 SCV000030605 pathogenic Carcinoma of colon 1999-11-01 no assertion criteria provided literature only
OMIM RCV000010380 SCV000030606 pathogenic SUDDEN INFANT DEATH SYNDROME 1999-11-01 no assertion criteria provided literature only

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