ClinVar Miner

Submissions for variant NM_003383.5(VLDLR):c.1313G>A (p.Gly438Asp) (rs200605669)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000902178 SCV001046588 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Baylor Genetics RCV001334134 SCV001526884 uncertain significance Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 2018-09-14 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Mayo Clinic Laboratories, Mayo Clinic RCV000902178 SCV001713479 uncertain significance not provided 2020-07-21 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118816 SCV000153463 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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