ClinVar Miner

Submissions for variant NM_152419.3(HGSNAT):c.690G>A (p.Thr230=)

gnomAD frequency: 0.00002  dbSNP: rs1303093971
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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 RCV001429737 SCV001632456 likely benign Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 2024-09-23 criteria provided, single submitter clinical testing

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