ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.1563G>A (p.Pro521=)

gnomAD frequency: 0.00252  dbSNP: rs61737297
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000967703 SCV001115112 benign Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease axonal type 2V 2024-01-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003916241 SCV004739384 benign NAGLU-related condition 2019-05-20 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001274191 SCV001458034 benign Mucopolysaccharidosis, MPS-III-B 2019-11-11 no assertion criteria provided clinical testing

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