ClinVar Miner

Submissions for variant NM_017646.6(TRIT1):c.568C>T (p.Gln190Ter)

dbSNP: rs2124597984
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences RCV001731137 SCV001981512 pathogenic Combined oxidative phosphorylation deficiency 35 criteria provided, single submitter clinical testing

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