ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.2221G>A (p.Gly741Arg)

gnomAD frequency: 0.01841  dbSNP: rs61234887
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224942 SCV000281254 benign not provided 2015-09-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000323890 SCV000410784 benign Deficiency of alpha-mannosidase 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000323890 SCV000627791 benign Deficiency of alpha-mannosidase 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV000224942 SCV001870714 benign not provided 2019-03-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000323890 SCV002809063 benign Deficiency of alpha-mannosidase 2021-08-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000224942 SCV005314684 benign not provided criteria provided, single submitter not provided
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252563 SCV001428320 likely benign Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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