ClinVar Miner

Submissions for variant NM_001010867.4(IBA57):c.346C>T (p.Gln116Ter)

dbSNP: rs1339829600
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001783452 SCV002018178 pathogenic not provided 2020-11-16 criteria provided, single submitter clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV004813186 SCV005438379 pathogenic Multiple mitochondrial dysfunctions syndrome 3 2024-12-18 criteria provided, single submitter clinical testing

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