ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.1151G>A (p.Ser384Asn) (rs25414)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000077999 SCV000109837 benign not specified 2012-07-13 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000077999 SCV000301616 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000261664 SCV000458380 likely benign Mucopolysaccharidosis type VI 2016-06-14 criteria provided, single submitter clinical testing
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova RCV000261664 SCV000802961 benign Mucopolysaccharidosis type VI 2018-01-01 criteria provided, single submitter curation Allele frequency greater than expected for disorder (BS1); Homozygotes reported in ExAC (BS2); Classified benign by a reputable source (BP6)
SIB Swiss Institute of Bioinformatics RCV000261664 SCV000803562 benign Mucopolysaccharidosis type VI 2018-05-31 criteria provided, single submitter curation This variant is interpreted as a Benign, for Mucopolysaccharidosis type VI, in Autosomal Recessive manner. The following ACMG Tag(s) were applied: BS1 => Allele frequency is greater than expected for disorder. BS2 => Observed in a healthy adult individual for a recessive (homozygous), dominant (heterozygous), or X-linked (hemizygous) disorder, with full penetrance expected at an early age. BP4 => Multiple lines of computational evidence suggest no impact on gene or gene product (conservation, evolutionary, splicing impact, etc.). BS4 => Lack of segregation in affected members of a family (PMID:19259130).
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675202 SCV000800844 benign not provided 2015-12-16 no assertion criteria provided clinical testing

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