ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.1284C>T (p.His428=)

gnomAD frequency: 0.00003  dbSNP: rs782163574
Minimum review status: Collection method:
Minimum conflict level:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000913612 SCV001058765 likely benign Mucopolysaccharidosis, MPS-II 2025-11-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV000913612 SCV001465830 likely benign Mucopolysaccharidosis, MPS-II 2020-10-16 no assertion criteria provided clinical testing

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