ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.894G>A (p.Gln298=)

gnomAD frequency: 0.00005  dbSNP: rs781812519
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 RCV001512775 SCV001720237 benign Mucopolysaccharidosis, MPS-II 2024-01-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832685 SCV002084474 likely benign Mucopolysaccharidosis, MPS-III-A 2021-10-15 no assertion criteria provided clinical testing

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