ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.642C>T (p.Ser214=) (rs1800301)

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Total submissions: 8
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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 RCV000330247 SCV000733724 benign Glycogen storage disease, type II no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078184 SCV000110022 benign not specified 2015-02-12 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000078184 SCV000151264 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000330247 SCV000407266 likely benign Glycogen storage disease, type II 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586465 SCV000695663 benign not provided 2016-03-08 criteria provided, single submitter clinical testing Variant summary: This GAA c.642C>T variant affects a non-conserved nucleotide, resulting in no amino acid change. 5/5 splice-site tools via Alamut predict that this variant does not affect normal splicing. This variant was found in 21664/120192 control chromosomes from ExAC at a frequency of 0.1802449, which is more than 42 times greater than the maximal expected frequency of a pathogenic allele (0.0042205) in this gene, suggesting this variant is benign. The variant has been cited in at least one adult glycogen storage disease type II patient with an alternative genetic explanation for their disease. In addition, multiple clinical laboratories have classified this variant as benign. Taken together, this variant has been classified as Benign.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000586465 SCV000800862 benign not provided 2015-10-19 no assertion criteria provided clinical testing
Phosphorus, Inc. RCV000330247 SCV000679770 benign Glycogen storage disease, type II 2017-08-01 criteria provided, single submitter clinical testing
PreventionGenetics RCV000078184 SCV000302693 benign not specified criteria provided, single submitter clinical testing

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