ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.2260G>A (p.Glu754Lys) (rs141212446)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000267336 SCV000410783 uncertain significance Deficiency of alpha-mannosidase 2018-01-13 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000675478 SCV000709515 uncertain significance not provided 2017-06-27 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000267336 SCV000782646 uncertain significance Deficiency of alpha-mannosidase 2017-05-01 criteria provided, single submitter clinical testing
Invitae RCV000267336 SCV001033169 likely benign Deficiency of alpha-mannosidase 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000675478 SCV001151679 uncertain significance not provided 2018-11-01 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675478 SCV000801167 uncertain significance not provided 2017-04-19 no assertion criteria provided clinical testing

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