ClinVar Miner

Submissions for variant NM_019098.4(CNGB3):c.1578+1G>A (rs372006750)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169421 SCV000220830 likely pathogenic Achromatopsia 3 2014-10-22 criteria provided, single submitter literature only
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724126 SCV000225904 pathogenic not provided 2014-10-17 criteria provided, single submitter clinical testing
Institute for Ophthalmic Research,University Tuebingen RCV000592120 SCV000700213 pathogenic Achromatopsia 2018-03-20 criteria provided, single submitter research
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001195979 SCV001366406 pathogenic Abnormal electroretinogram; Retinal degeneration; Cone/cone-rod dystrophy; Photophobia; Monochromacy 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2,PP4,PP5. This variant was detected in heterozygous state.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001196104 SCV001366575 pathogenic Cone/cone-rod dystrophy; Horizontal nystagmus; Muscular hypotonia 2019-03-04 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PP5. This variant was detected in heterozygous state.
Institute for Ophthalmic Research,University Tuebingen RCV000169421 SCV000575851 pathogenic Achromatopsia 3 2017-03-27 no assertion criteria provided research

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