ClinVar Miner

Submissions for variant NM_003383.5(VLDLR):c.1312+27G>A

gnomAD frequency: 0.14831  dbSNP: rs11793899
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000833714 SCV000975478 benign not provided 2018-06-14 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.
Genome-Nilou Lab RCV002245704 SCV002514476 benign Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000833714 SCV005273087 benign not provided criteria provided, single submitter not provided

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