ClinVar Miner

Submissions for variant NM_033109.5(PNPT1):c.867-47T>A

gnomAD frequency: 0.92991  dbSNP: rs782631
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000830782 SCV000972518 benign not provided 2018-06-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab RCV001789377 SCV002031599 benign Combined oxidative phosphorylation defect type 13 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789378 SCV002031600 benign Autosomal recessive nonsyndromic hearing loss 70 2021-10-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000830782 SCV005244191 benign not provided criteria provided, single submitter not provided

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