ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.754G>A (p.Asp252Asn)

gnomAD frequency: 0.00372  dbSNP: rs146458524
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000487550 SCV000575663 uncertain significance not provided 2016-09-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002318593 SCV000849678 benign Inborn genetic diseases 2017-05-30 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV001081450 SCV001006270 benign Mucopolysaccharidosis, MPS-II 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001081450 SCV002014455 benign Mucopolysaccharidosis, MPS-II 2021-09-05 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001530082 SCV001744683 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000487550 SCV001798124 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001530082 SCV001921790 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001530082 SCV001932089 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001530082 SCV001965075 benign not specified no assertion criteria provided clinical testing
Natera, Inc. RCV001829395 SCV002084482 likely benign Mucopolysaccharidosis, MPS-III-A 2020-01-31 no assertion criteria provided clinical testing

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