ClinVar Miner

Submissions for variant NM_001256047.1(C19orf12):c.391A>G (p.Lys131Glu) (rs146170087)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000415210 SCV000492734 pathogenic Dystonia; Mental deterioration; Tremor; Adult-onset night blindness; Peripheral visual field loss 2015-07-01 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000509226 SCV000607239 not provided Neurodegeneration with brain iron accumulation 4; Spastic paraplegia 43, autosomal recessive 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.
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000714889 SCV000845636 uncertain significance Spastic paraplegia 5A 2018-08-07 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000024154 SCV000845637 uncertain significance Neurodegeneration with brain iron accumulation 4 2018-08-07 criteria provided, single submitter clinical testing
Invitae RCV000553096 SCV000647094 benign Spastic paraplegia 43, autosomal recessive 2017-02-15 criteria provided, single submitter clinical testing
OMIM RCV000024154 SCV000045445 pathogenic Neurodegeneration with brain iron accumulation 4 2011-10-07 no assertion criteria provided literature only

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