ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.1446G>A (p.Arg482=) (rs115994665)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625281 SCV000744577 likely benign Mucopolysaccharidosis, MPS-III-B 2017-06-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000761954 SCV000892181 likely benign not provided 2018-05-01 criteria provided, single submitter clinical testing
Invitae RCV001080068 SCV001025406 likely benign Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease, axonal type 2V 2020-12-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000625281 SCV001282981 uncertain significance Mucopolysaccharidosis, MPS-III-B 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Clinical Genetics,Academic Medical Center RCV001701131 SCV001923611 benign not specified no assertion criteria provided clinical testing

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