ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.396G>A (p.Ser132=)

gnomAD frequency: 0.00063  dbSNP: rs147108245
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177013 SCV000228817 uncertain significance not provided 2014-10-22 criteria provided, single submitter clinical testing
Invitae RCV001085852 SCV001013922 benign Mucopolysaccharidosis, MPS-II 2024-01-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001085852 SCV002014458 likely benign Mucopolysaccharidosis, MPS-II 2021-09-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826898 SCV002084494 likely benign Mucopolysaccharidosis, MPS-III-A 2021-02-11 no assertion criteria provided clinical testing

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