ClinVar Miner

Submissions for variant NM_033109.5(PNPT1):c.1074-19A>G

gnomAD frequency: 0.45197  dbSNP: rs782637
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000174609 SCV000171084 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.
Eurofins Ntd Llc (ga) RCV000174609 SCV000225931 benign not specified 2015-05-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001515830 SCV001723989 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789177 SCV002031596 benign Combined oxidative phosphorylation defect type 13 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789178 SCV002031598 benign Autosomal recessive nonsyndromic hearing loss 70 2021-10-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001515830 SCV005244185 benign not provided criteria provided, single submitter not provided

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