Submissions for variant NM_003383.5(VLDLR):c.2041C>T (p.Leu681=)

gnomAD frequency: 0.00518  dbSNP: rs79720897

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000118820	SCV000153467	benign	not specified	2014-01-27	criteria provided, single submitter	clinical testing
GeneDx	RCV000118820	SCV000169805	benign	not specified	2014-05-29	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.
Eurofins Ntd Llc (ga)	RCV000118820	SCV000332094	benign	not specified	2015-06-15	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000380151	SCV000479358	uncertain significance	Congenital cerebellar hypoplasia	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV000953148	SCV001099702	benign	not provided	2024-01-30	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001168793	SCV001331415	benign	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
CeGaT Center for Human Genetics Tuebingen	RCV000953148	SCV003917647	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	VLDLR: BP4, BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003915177	SCV004730858	benign	VLDLR-related condition	2019-05-01	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).