ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.2209C>A (p.Arg737Ser) (rs86312)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000604099 SCV000733581 benign Mucopolysaccharidosis, MPS-III-B no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078456 SCV000110312 benign not specified 2013-01-23 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000326969 SCV000402918 uncertain significance Sanfilippo syndrome 2016-06-14 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675734 SCV000801450 benign not provided 2017-04-21 no assertion criteria provided clinical testing

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