ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.1983G>A (p.Lys661=)

gnomAD frequency: 0.00063  dbSNP: rs181021573
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000543925 SCV000656085 benign Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease axonal type 2V 2025-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004710138 SCV005250417 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001276830 SCV001463395 benign Mucopolysaccharidosis, MPS-III-B 2020-09-16 no assertion criteria provided clinical testing

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