ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.2973G>A (p.Thr991=)

gnomAD frequency: 0.00016  dbSNP: rs148945108
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000908443 SCV001053207 likely benign Deficiency of alpha-mannosidase 2024-01-25 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000908443 SCV001281177 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.
Genome-Nilou Lab RCV000908443 SCV002014521 likely benign Deficiency of alpha-mannosidase 2021-09-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003424465 SCV004137890 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing MAN2B1: BP4, BP7
Natera, Inc. RCV000908443 SCV001461334 likely benign Deficiency of alpha-mannosidase 2020-09-16 no assertion criteria provided clinical testing

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