ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.2209C>G (p.Arg737Gly) (rs86312)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078457 SCV000110313 benign not specified 2013-10-23 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078457 SCV000303317 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000388513 SCV000402919 benign Sanfilippo syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588373 SCV000696363 benign not provided 2016-12-05 criteria provided, single submitter clinical testing Variant summary: The NAGLU c.2209C>G (p.Arg737Gly) variant involves the alteration of a non-conserved nucleotide. 2/3 in silico tools predict a damaging outcome for this variant, however they are not definite. This variant was found in 108969/120346 control chromosomes (including 49702 homozygotes) at a frequency of 0.9054642, which is approximately 362 times the estimated maximal expected allele frequency of a pathogenic NAGLU variant (0.0025), thus showing that this variant is a benign polymorphism and allele G is an ancestral allele. In addition, clinical diagnostic laboratories/reputable databases have classified this variant as benign. Taken together, based on the prevalence in the general population this variant is classified as benign.
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000609064 SCV000733582 benign Mucopolysaccharidosis, MPS-III-B no assertion criteria provided clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000588373 SCV000801451 benign not provided 2015-10-23 no assertion criteria provided clinical testing

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