ClinVar Miner

Submissions for variant NM_003383.5(VLDLR):c.-42GGC[9]

dbSNP: rs71329437
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000289387 SCV000341736 likely benign not specified 2016-05-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000338938 SCV000479323 uncertain significance Congenital cerebellar hypoplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000338938 SCV000479326 benign Congenital cerebellar hypoplasia 2016-06-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000289387 SCV000597847 uncertain significance not specified 2016-05-19 criteria provided, single submitter clinical testing
GeneDx RCV001660552 SCV001873047 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002244739 SCV002514471 benign Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 2021-12-05 criteria provided, single submitter clinical testing

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