ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.1068C>T (p.Pro356=)

dbSNP: rs117880912
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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 RCV001122644 SCV001281387 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 RCV001122644 SCV001650597 likely benign Deficiency of alpha-mannosidase 2024-01-06 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001122644 SCV002014545 likely benign Deficiency of alpha-mannosidase 2021-09-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003405331 SCV004137897 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing MAN2B1: BP4, BP7

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