ClinVar Miner

Submissions for variant NM_152419.3(HGSNAT):c.1839C>T (p.Ile613=)

gnomAD frequency: 0.00004  dbSNP: rs772611068
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001482883 SCV001687262 likely benign Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 2024-12-26 criteria provided, single submitter clinical testing
GeneDx RCV001581157 SCV001813464 likely benign not provided 2021-04-21 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888209 SCV004706051 likely benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Natera, Inc. RCV001832629 SCV002083334 likely benign Mucopolysaccharidosis, MPS-III-C 2021-06-06 no assertion criteria provided clinical testing

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