Submissions for variant NM_003383.5(VLDLR):c.2291C>T (p.Thr764Met)

gnomAD frequency: 0.00223  dbSNP: rs56737058

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000885664	SCV000515254	benign	not provided	2020-06-16	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000755656	SCV000883056	likely benign	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	2018-10-31	criteria provided, single submitter	clinical testing
Invitae	RCV000885664	SCV001029127	likely benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000755656	SCV001329974	likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
CeGaT Center for Human Genetics Tuebingen	RCV000885664	SCV004700532	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	VLDLR: BP4, BS2
PreventionGenetics, part of Exact Sciences	RCV003905130	SCV004724385	likely benign	VLDLR-related condition	2019-12-20	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Genetic Services Laboratory, University of Chicago	RCV000118822	SCV000153469	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.