ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.844C>T (p.Pro282Ser) (rs45576136)

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Total submissions: 3
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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 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,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.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675486 SCV000801176 likely benign not provided 2017-05-17 no assertion criteria provided clinical testing

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