ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.1227G>A (p.Thr409=)

gnomAD frequency: 0.00009  dbSNP: rs201905166
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000180474 SCV000232924 uncertain significance not provided 2015-05-11 criteria provided, single submitter clinical testing
Invitae RCV001078787 SCV001076224 benign Mucopolysaccharidosis, MPS-II 2024-01-21 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001078787 SCV002014454 likely benign Mucopolysaccharidosis, MPS-II 2021-09-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826923 SCV002084460 likely benign Mucopolysaccharidosis, MPS-III-A 2019-10-28 no assertion criteria provided clinical testing

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