ClinVar Miner

Submissions for variant NC_012920.1(MT-ND1):m.3922G>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital RCV004813248 SCV005423735 likely pathogenic Mitochondrial complex I deficiency 2024-12-13 criteria provided, single submitter clinical testing The identified homoplasmic variant in MT-ND1 gene is a null variant fulfilling PVS1 criteria and PM2 criteria, thus is classified as likely pathogenic variant.

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