ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.1467C>T (p.Asp489=)

gnomAD frequency: 0.00015  dbSNP: rs115550028
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000893474 SCV001037409 likely benign Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease axonal type 2V 2024-01-13 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001124071 SCV001282983 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. RCV001124071 SCV001458032 uncertain significance Mucopolysaccharidosis, MPS-III-B 2020-01-24 no assertion criteria provided clinical testing

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