ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.1581G>A (p.Arg527=)

gnomAD frequency: 0.00328  dbSNP: rs149613968
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001126314 SCV001122585 benign Deficiency of alpha-mannosidase 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001126314 SCV001285491 likely benign 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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Fulgent Genetics, Fulgent Genetics RCV001126314 SCV002798417 likely benign Deficiency of alpha-mannosidase 2021-08-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000675479 SCV004137895 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing MAN2B1: BP4, BP7, BS2
Mayo Clinic Laboratories, Mayo Clinic RCV000675479 SCV000801169 likely benign not provided 2017-12-06 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001700292 SCV001925640 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000675479 SCV001973392 likely benign not provided no assertion criteria provided clinical testing

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