ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.1642T>C (p.Leu548=)

gnomAD frequency: 0.00002  dbSNP: rs1557337560
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001446722 SCV001649774 likely benign Mucopolysaccharidosis, MPS-II 2023-11-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826267 SCV002084454 likely benign Mucopolysaccharidosis, MPS-III-A 2021-04-01 no assertion criteria provided clinical testing

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