ClinVar Miner

Submissions for variant NM_033109.5(PNPT1):c.1390C>A (p.Arg464=)

gnomAD frequency: 0.48848  dbSNP: rs2627765
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127509 SCV000171086 benign not specified 2013-09-05 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.
Invitae RCV000676644 SCV001733483 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789179 SCV002031592 benign Combined oxidative phosphorylation defect type 13 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789180 SCV002031593 benign Autosomal recessive nonsyndromic hearing loss 70 2021-10-25 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676644 SCV000802437 benign not provided 2016-02-19 no assertion criteria provided clinical testing

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