ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.237G>A (p.Ala79=)

gnomAD frequency: 0.00001  dbSNP: rs782183418
Minimum review status: Collection method:
Minimum conflict level:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003432908 SCV004166987 likely benign not provided 2022-04-01 criteria provided, single submitter clinical testing IDS: BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV000915243 SCV001060442 likely benign Mucopolysaccharidosis, MPS-II 2026-01-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV000915243 SCV001462906 likely benign Mucopolysaccharidosis, MPS-II 2020-09-16 no assertion criteria provided clinical testing

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