ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.849G>C (p.Val283=)

gnomAD frequency: 0.00021  dbSNP: rs147374356
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000908887 SCV001053671 benign Mucopolysaccharidosis, MPS-II 2023-12-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003432899 SCV004166984 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing IDS: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003902846 SCV004722848 likely benign IDS-related disorder 2019-06-11 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001836008 SCV002084477 likely benign Mucopolysaccharidosis, MPS-III-A 2020-02-27 no assertion criteria provided clinical testing

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