ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.301C>T (p.Arg101Cys)

gnomAD frequency: 0.00004  dbSNP: rs782738754
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000353621 SCV000340484 uncertain significance not provided 2016-03-14 criteria provided, single submitter clinical testing
Invitae RCV001088215 SCV000753284 benign Mucopolysaccharidosis, MPS-II 2024-01-21 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001088215 SCV002014459 uncertain significance Mucopolysaccharidosis, MPS-II 2021-09-05 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001088215 SCV004235541 uncertain significance Mucopolysaccharidosis, MPS-II 2023-08-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV001833368 SCV002084496 likely benign Mucopolysaccharidosis, MPS-III-A 2020-01-15 no assertion criteria provided clinical testing

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