ClinVar Miner

Submissions for variant NM_004541.4(NDUFA1):c.94G>C (p.Gly32Arg) (rs1801316)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000173348 SCV000170653 benign not specified 2013-08-05 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000173348 SCV000224448 benign not specified 2015-02-25 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000418299 SCV000511133 benign not provided 2017-01-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717640 SCV000848494 benign History of neurodevelopmental disorder 2014-10-28 criteria provided, single submitter clinical testing Does not segregate with disease in family study (genes with incomplete penetrance);Subpopulation frequency in support of benign classification
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000418299 SCV000884218 benign not provided 2018-02-08 criteria provided, single submitter clinical testing
Invitae RCV000418299 SCV001109908 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000990934 SCV001142003 likely benign Mitochondrial complex 1 deficiency, nuclear type 12 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000030653 SCV000053331 uncertain significance Mitochondrial complex I deficiency 2011-08-01 no assertion criteria provided literature only
GenomeConnect, ClinGen RCV000030653 SCV000607064 not provided Mitochondrial complex I deficiency no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000418299 SCV000802917 uncertain significance not provided 2016-02-24 no assertion criteria provided clinical testing

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