ClinVar Miner

Submissions for variant NC_012920.1(MT-ND3):m.10321T>C

dbSNP: rs193302928
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Total submissions: 3
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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 RCV000224675 SCV000281649 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 RCV000854636 SCV000997677 benign Leigh syndrome 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.10321T>C (YP_003024033.1:p.Val88Ala) variant in MTND3 gene is interpretated to be a Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: BA1
Breakthrough Genomics, Breakthrough Genomics RCV000224675 SCV005207877 likely benign not provided criteria provided, single submitter not provided

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