ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.906C>G (p.Ala302=)

gnomAD frequency: 0.00001  dbSNP: rs1227669625
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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 RCV002076537 SCV002424842 likely benign Mucopolysaccharidosis, MPS-II 2022-12-07 criteria provided, single submitter clinical testing

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