ClinVar Miner

Submissions for variant NM_003383.5(VLDLR):c.464G>C (p.Ser155Thr)

gnomAD frequency: 0.00311  dbSNP: rs34080096
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000118814 SCV000231049 benign not specified 2015-03-13 criteria provided, single submitter clinical testing
GeneDx RCV000118814 SCV000515252 likely benign not specified 2016-12-19 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.
Invitae RCV000882448 SCV001025688 likely benign not provided 2024-01-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000882448 SCV004161794 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing VLDLR: BS1
Genetic Services Laboratory, University of Chicago RCV000118814 SCV000153461 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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