ClinVar Miner

Submissions for variant NM_152419.3(HGSNAT):c.1836C>T (p.Asn612=)

gnomAD frequency: 0.00002  dbSNP: rs367648422
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 RCV001398009 SCV001599775 likely benign Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 2024-05-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826195 SCV002083333 likely benign Mucopolysaccharidosis, MPS-III-C 2021-07-06 no assertion criteria provided clinical testing

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