ClinVar Miner

Submissions for variant NM_152419.3(HGSNAT):c.204C>A (p.Thr68=)

dbSNP: rs199816365
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001339549 SCV001533300 likely benign Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 2024-12-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830413 SCV002083273 uncertain significance Mucopolysaccharidosis, MPS-III-C 2021-03-12 no assertion criteria provided clinical testing

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