ClinVar Miner

Submissions for variant NM_033109.5(PNPT1):c.*11dup

dbSNP: rs35916020
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000200776 SCV000252104 benign not specified 2014-06-24 criteria provided, single submitter clinical testing The variant is found in MITONUC-MITOP panel(s).
Genome-Nilou Lab RCV001789227 SCV002031590 benign Combined oxidative phosphorylation defect type 13 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789228 SCV002031591 benign Autosomal recessive nonsyndromic hearing loss 70 2021-10-25 criteria provided, single submitter clinical testing

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