ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.2006C>T (p.Pro669Leu) (rs75029862)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000203001 SCV000257701 benign not specified 2015-02-05 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224345 SCV000281422 benign not provided 2014-12-09 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000203001 SCV000331144 benign not specified 2016-04-18 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000260388 SCV000410786 likely benign Deficiency of alpha-mannosidase 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000260388 SCV000752986 benign Deficiency of alpha-mannosidase 2017-12-06 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000203001 SCV000919598 benign not specified 2017-11-08 criteria provided, single submitter clinical testing Variant summary: The MAN2B1 c.2006C>T (p.Pro669Leu) variant involves the alteration of a conserved nucleotide and 3/4 in silico tools predict a damaging outcome for this variant (SNPsandGO not captured due to low reliability index). This variant was found in 2336/277222 (34 homozygotes) control chromosomes (gnomAD) at a frequency of 0.0084265, which is approximately 5 times the estimated maximal expected allele frequency of a pathogenic MAN2B1 variant (0.0015811), suggesting this variant is likely a benign polymorphism. Functional study showed variant with comparable level of activity as wild type (Stensland_015). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as "likely benign/benign." Taken together, this variant is classified as benign.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000224345 SCV000801168 benign not provided 2015-12-16 no assertion criteria provided clinical testing

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