ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.844C>T (p.Pro282Ser)

gnomAD frequency: 0.00296  dbSNP: rs45576136
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001123738 SCV001110321 likely benign Deficiency of alpha-mannosidase 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001123738 SCV001282599 uncertain significance Deficiency of alpha-mannosidase 2017-07-26 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Genome-Nilou Lab RCV001123738 SCV002014548 likely benign Deficiency of alpha-mannosidase 2021-09-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000675486 SCV004042032 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing MAN2B1: BS2
Mayo Clinic Laboratories, Mayo Clinic RCV000675486 SCV000801176 likely benign not provided 2017-05-17 no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000675486 SCV001979897 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000675486 SCV001980058 likely benign not provided no assertion criteria provided clinical testing

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