ClinVar Miner

Submissions for variant NM_001953.5(TYMP):c.628A>C (p.Ser210Arg)

gnomAD frequency: 0.00001  dbSNP: rs761665644
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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 RCV000508974 SCV000605937 pathogenic Mitochondrial DNA depletion syndrome 1 2016-03-01 criteria provided, single submitter clinical testing

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