ClinVar Miner

Submissions for variant NM_005908.4(MANBA):c.2482G>A (p.Val828Ile)

gnomAD frequency: 0.01517  dbSNP: rs75826658
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000333263 SCV000446765 benign Beta-D-mannosidosis 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.
Athena Diagnostics Inc RCV000675780 SCV001144527 benign not provided 2019-07-26 criteria provided, single submitter clinical testing
Invitae RCV000333263 SCV001720747 benign Beta-D-mannosidosis 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000675780 SCV001982410 likely benign not provided 2022-09-27 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Mayo Clinic Laboratories, Mayo Clinic RCV000675780 SCV000801501 benign not provided 2015-10-26 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001795965 SCV002033953 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000675780 SCV002035429 likely benign not provided no assertion criteria provided clinical testing

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