ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.2661G>A (p.Thr887=)

gnomAD frequency: 0.00001  dbSNP: rs775212002
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001126213 SCV001285377 uncertain significance Deficiency of alpha-mannosidase 2017-04-27 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae RCV001126213 SCV001705429 likely benign Deficiency of alpha-mannosidase 2024-01-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001126213 SCV002014526 likely benign Deficiency of alpha-mannosidase 2021-09-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003413932 SCV004137891 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing MAN2B1: BP4, BP7

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