ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.1238A>G (p.Asn413Ser) (rs35836657)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000117592 SCV000202960 benign not specified 2014-04-09 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000117592 SCV000304695 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000392754 SCV000410797 likely benign Deficiency of alpha-mannosidase 2016-06-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000117592 SCV000151815 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675482 SCV000801172 benign not provided 2015-10-20 no assertion criteria provided clinical testing

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