ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.258C>T (p.Ala86=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002585344 SCV003492347 likely benign Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease axonal type 2V 2024-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003420353 SCV004138368 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing NAGLU: BP4, BP7

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