ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.507+6G>T

gnomAD frequency: 0.00012  dbSNP: rs370769925
Minimum review status: Collection method:
Minimum conflict level:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000935202 SCV001080943 likely benign Mucopolysaccharidosis, MPS-II 2025-03-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV000935202 SCV001465834 likely benign Mucopolysaccharidosis, MPS-II 2020-10-26 no assertion criteria provided clinical testing

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