ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.104A>G (p.Asp35Gly)

gnomAD frequency: 0.00019  dbSNP: rs144081417
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000675884 SCV000227053 uncertain significance not provided 2014-06-02 criteria provided, single submitter clinical testing
Invitae RCV001081199 SCV001018443 benign Mucopolysaccharidosis, MPS-II 2024-01-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001081199 SCV002014461 likely benign Mucopolysaccharidosis, MPS-II 2021-09-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003965264 SCV004778452 likely benign IDS-related disorder 2023-02-27 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).
Mayo Clinic Laboratories, Mayo Clinic RCV000675884 SCV000801610 likely benign not provided 2017-06-15 no assertion criteria provided clinical testing
Natera, Inc. RCV001835703 SCV002084499 likely benign Mucopolysaccharidosis, MPS-III-A 2019-10-28 no assertion criteria provided clinical testing

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