ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.54C>G (p.Ala18=)

dbSNP: rs1276497226
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002134709 SCV002413245 likely benign Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease axonal type 2V 2021-09-15 criteria provided, single submitter clinical testing

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