ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.696C>T (p.Phe232=)

gnomAD frequency: 0.00004  dbSNP: rs782498858
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 RCV000955138 SCV001101826 benign Mucopolysaccharidosis, MPS-II 2025-11-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV000955138 SCV001465833 likely benign Mucopolysaccharidosis, MPS-II 2020-09-18 no assertion criteria provided clinical testing

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