ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.317G>A (p.Arg106His) (rs150087888)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000677545 SCV000895720 uncertain significance Mucopolysaccharidosis type VI 2018-10-31 criteria provided, single submitter clinical testing
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova RCV000677545 SCV000803058 uncertain significance Mucopolysaccharidosis type VI 2018-01-01 criteria provided, single submitter curation
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675209 SCV000800851 uncertain significance not provided 2017-09-20 no assertion criteria provided clinical testing

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