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
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000614536 SCV000733113 benign Congenital disorder of glycosylation type 1H no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082158 SCV000114104 benign not specified 2012-10-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000312261 SCV000374570 likely benign Congenital disorder of glycosylation 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000082158 SCV000314246 likely benign not specified criteria provided, single submitter clinical testing
SIB Swiss Institute of Bioinformatics RCV000614536 SCV000803457 benign Congenital disorder of glycosylation type 1H 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.

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