ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.1557G>A (p.Arg519=) (rs150905331)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000899423 SCV001043689 benign Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease, axonal type 2V 2020-12-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001126733 SCV001285971 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.
Natera, Inc. RCV001126733 SCV001458033 benign Mucopolysaccharidosis, MPS-III-B 2020-05-05 no assertion criteria provided clinical testing

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