ClinVar Miner

Submissions for variant NM_152419.3(HGSNAT):c.12G>A (p.Ala4=)

gnomAD frequency: 0.00061  dbSNP: rs1018475767
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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 RCV000939905 SCV001085758 likely benign Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 2025-01-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273608 SCV001456792 uncertain significance Mucopolysaccharidosis, MPS-III-C 2019-11-11 no assertion criteria provided clinical testing

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