ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.1077G>C (p.Leu359=)

gnomAD frequency: 0.00002  dbSNP: rs913480314
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002178359 SCV002479167 likely benign Mucopolysaccharidosis, MPS-II 2024-08-07 criteria provided, single submitter clinical testing

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