ClinVar Miner

Submissions for variant NC_012920.1(MT-ND1):m.3796A>T

dbSNP: rs28357970
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224953 SCV000281395 likely benign not provided 2015-08-12 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000853709 SCV000996740 benign Leigh syndrome 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.3796A>T (YP_003024026.1:p.Thr164Ser) variant in MTND1 gene is interpretated to be a Benign variant based on the modified ACMG guidelines (unpublished).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, BP4

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