ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.1437G>T (p.Ala479=)

gnomAD frequency: 0.00045  dbSNP: rs139435774
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000631885 SCV000752985 likely benign Deficiency of alpha-mannosidase 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000631885 SCV001285495 uncertain significance 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, 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.
Genome-Nilou Lab RCV000631885 SCV001805936 likely benign Deficiency of alpha-mannosidase 2021-07-14 criteria provided, single submitter clinical testing
Revvity Omics, Revvity Omics RCV000631885 SCV003808251 uncertain significance Deficiency of alpha-mannosidase 2022-06-20 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529835 SCV001743994 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001701139 SCV001921733 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001529835 SCV001972814 likely benign not provided no assertion criteria provided clinical testing

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