ClinVar Miner

Submissions for variant NM_152419.3(HGSNAT):c.682C>A (p.Pro228Thr)

gnomAD frequency: 0.00008  dbSNP: rs369975831
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001361947 SCV001557942 likely benign Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 2025-01-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826013 SCV002083290 uncertain significance Mucopolysaccharidosis, MPS-III-C 2020-04-14 no assertion criteria provided clinical testing

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