ClinVar Miner

Submissions for variant NM_152419.3(HGSNAT):c.1392C>A (p.Thr464=)

dbSNP: rs767972481
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001348240 SCV001542534 likely benign Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 2023-08-28 criteria provided, single submitter clinical testing

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