ClinVar Miner

Submissions for variant NM_003383.5(VLDLR):c.242A>G (p.Asn81Ser)

gnomAD frequency: 0.00115  dbSNP: rs140526335
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000971143 SCV000589445 benign not provided 2020-04-01 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24036952)
Genetic Services Laboratory,University of Chicago RCV000498823 SCV000597850 likely benign not specified 2017-03-08 criteria provided, single submitter clinical testing
Eurofins NTD LLC (GA) RCV000498823 SCV000708998 benign not specified 2017-06-07 criteria provided, single submitter clinical testing
Invitae RCV000971143 SCV001118765 benign not provided 2021-12-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000971143 SCV001155595 uncertain significance not provided 2016-06-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV001167941 SCV001330492 likely benign Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 2018-01-13 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.

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