ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.423T>C (p.Ser141=) (rs659497)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000613241 SCV000744575 benign Mucopolysaccharidosis, MPS-III-B 2017-06-28 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000613241 SCV000733577 benign Mucopolysaccharidosis, MPS-III-B no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078458 SCV000110314 benign not specified 2013-10-23 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000295179 SCV000402903 benign Sanfilippo syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587380 SCV000696368 benign not provided 2016-12-05 criteria provided, single submitter clinical testing Variant summary: The NAGLU c.423T>C (p.Ser141Ser) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. 5/5 splice prediction tools predict no significant impact on normal splicing. This variant was found in 120745/121388 control chromosomes (including 60052 homozygotes) at a frequency of 0.9947029, which is approximately 398 times the estimated maximal expected allele frequency of a pathogenic NAGLU variant (0.0025), showing that this variant is a benign polymorphism and allele C is an ancestral allele. In addition, clinical diagnostic laboratories/reputable databases have classified this variant as benign. Taken together, this variant is classified as Benign.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000587380 SCV000801445 benign not provided 2015-10-23 no assertion criteria provided clinical testing
PreventionGenetics RCV000078458 SCV000303318 benign not specified criteria provided, single submitter clinical testing

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