ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.2865G>C (p.Thr955=) (rs148108322)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000675472 SCV000110947 uncertain significance not provided 2013-05-02 criteria provided, single submitter clinical testing
Invitae RCV001079772 SCV001121589 benign Deficiency of alpha-mannosidase 2020-12-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001079772 SCV001284284 benign Deficiency of alpha-mannosidase 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Nilou-Genome Lab RCV001079772 SCV001737260 benign Deficiency of alpha-mannosidase 2021-05-18 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675472 SCV000801161 likely benign not provided 2017-04-12 no assertion criteria provided clinical testing
Natera, Inc. RCV001079772 SCV001453906 benign Deficiency of alpha-mannosidase 2019-12-30 no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV001705728 SCV001918279 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000675472 SCV001927598 likely benign not provided no assertion criteria provided clinical testing

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