ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.1821C>T (p.Asp607=)

gnomAD frequency: 0.00002  dbSNP: rs750401625
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001466353 SCV001670355 likely benign Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease axonal type 2V 2022-10-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274194 SCV001458037 likely benign Mucopolysaccharidosis, MPS-III-B 2020-05-05 no assertion criteria provided clinical testing

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