ClinVar Miner

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

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova RCV000677545 SCV000803058 uncertain significance Mucopolysaccharidosis type 6 2018-01-01 criteria provided, single submitter curation
Fulgent Genetics,Fulgent Genetics RCV000677545 SCV000895720 uncertain significance Mucopolysaccharidosis type 6 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000677545 SCV001120252 likely benign Mucopolysaccharidosis type 6 2020-11-25 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000677545 SCV001314950 likely benign Mucopolysaccharidosis type 6 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Mayo Clinic Laboratories, Mayo Clinic RCV000675209 SCV000800851 uncertain significance not provided 2017-09-20 no assertion criteria provided clinical testing
Natera, Inc. RCV000677545 SCV001458081 likely benign Mucopolysaccharidosis type 6 2019-12-30 no assertion criteria provided clinical testing

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