ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.1283G>A (p.Arg428His)

gnomAD frequency: 0.00186  dbSNP: rs144862290
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224037 SCV000281366 uncertain significance not provided 2015-08-26 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001085633 SCV001118161 benign Mucopolysaccharidosis, MPS-III-A 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001085633 SCV002045083 likely benign Mucopolysaccharidosis, MPS-III-A 2021-11-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV001085633 SCV001459564 benign Mucopolysaccharidosis, MPS-III-A 2019-11-11 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003947736 SCV004762759 likely benign SGSH-related disorder 2019-12-20 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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