ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.1515C>T (p.Ser505=) (rs112751577)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000675732 SCV000344852 uncertain significance not provided 2016-08-15 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000609923 SCV000744578 likely benign Mucopolysaccharidosis, MPS-III-B 2017-06-28 criteria provided, single submitter clinical testing
Invitae RCV001082045 SCV001115952 benign Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease, axonal type 2V 2020-12-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000609923 SCV001285970 uncertain significance Mucopolysaccharidosis, MPS-III-B 2018-01-12 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000609923 SCV000733579 likely benign Mucopolysaccharidosis, MPS-III-B no assertion criteria provided clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675732 SCV000801448 likely benign not provided 2017-03-16 no assertion criteria provided clinical testing
Natera, Inc. RCV000609923 SCV001463389 benign Mucopolysaccharidosis, MPS-III-B 2020-09-16 no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000675732 SCV001921886 likely benign not provided no assertion criteria provided clinical testing

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