ClinVar Miner

Submissions for variant NM_024079.5(ALG8):c.665A>G (p.Asn222Ser) (rs665278)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082158 SCV000114104 benign not specified 2012-10-04 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000082158 SCV000314246 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000614536 SCV000374570 benign ALG8-CDG 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
SIB Swiss Institute of Bioinformatics RCV000614536 SCV000803457 benign ALG8-CDG 2018-05-31 criteria provided, single submitter curation This variant is interpreted as a Benign - Stand Alone, for Congenital disorder of glycosylation, type Ih, in Autosomal Recessive manner. The following ACMG Tag(s) were applied: BA1 => Allele frequency is >5% in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium.
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000614536 SCV000733113 benign ALG8-CDG no assertion criteria provided clinical testing

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