ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.1181-13C>T

gnomAD frequency: 0.00078  dbSNP: rs188486717
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002060836 SCV002439996 benign Mucopolysaccharidosis, MPS-II 2024-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000675876 SCV005279667 benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000675876 SCV000801601 likely benign not provided 2017-10-16 no assertion criteria provided clinical testing

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