ClinVar Miner

Submissions for variant NM_152419.3(HGSNAT):c.60C>T (p.Ala20=)

gnomAD frequency: 0.00001  dbSNP: rs1251787808
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001427103 SCV001629776 likely benign Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 2023-12-30 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888134 SCV004706023 likely benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Natera, Inc. RCV001836400 SCV002083269 likely benign Mucopolysaccharidosis, MPS-III-C 2021-09-13 no assertion criteria provided clinical testing

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