ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.103+7C>T

gnomAD frequency: 0.00013  dbSNP: rs369735286
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000951903 SCV001098354 benign Mucopolysaccharidosis, MPS-II 2024-01-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000951903 SCV002805156 likely benign Mucopolysaccharidosis, MPS-II 2021-08-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003432957 SCV004166990 likely benign not provided 2022-04-01 criteria provided, single submitter clinical testing IDS: BP4
Natera, Inc. RCV001827042 SCV002084501 likely benign Mucopolysaccharidosis, MPS-III-A 2020-12-29 no assertion criteria provided clinical testing

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