ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.501C>T (p.Asn167=)

gnomAD frequency: 0.00004  dbSNP: rs375547801
Minimum review status: Collection method:
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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 RCV002091957 SCV002431394 likely benign Mucopolysaccharidosis, MPS-II 2021-01-11 criteria provided, single submitter clinical testing

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