ClinVar Miner

Submissions for variant NM_013339.4(ALG6):c.911C>T (p.Ser304Phe)

gnomAD frequency: 0.75355  dbSNP: rs4630153
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD LLC (GA) RCV000081560 SCV000113491 benign not specified 2012-10-04 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000081560 SCV000311972 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000323730 SCV000358595 benign ALG6-congenital disorder of glycosylation 1C 2018-03-06 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.
GeneDx RCV000081560 SCV000517505 benign not specified 2016-01-05 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.
Invitae RCV000323730 SCV001733018 benign ALG6-congenital disorder of glycosylation 1C 2021-12-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000323730 SCV001754918 benign ALG6-congenital disorder of glycosylation 1C 2021-07-10 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000081560 SCV002050716 benign not specified 2021-12-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000081560 SCV000150239 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.
Natera, Inc. RCV000323730 SCV001456281 benign ALG6-congenital disorder of glycosylation 1C 2020-09-16 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000081560 SCV001743069 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000081560 SCV001958950 benign not specified no assertion criteria provided clinical testing

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