ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.2267+8dup

dbSNP: rs572289342
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000333615 SCV000344505 likely benign not specified 2016-08-12 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000302464 SCV000410781 uncertain significance Deficiency of alpha-mannosidase 2016-06-14 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514960 SCV000609685 uncertain significance not provided 2017-05-11 criteria provided, single submitter clinical testing
Invitae RCV000302464 SCV001116106 likely benign Deficiency of alpha-mannosidase 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000514960 SCV004042030 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing MAN2B1: BS2
Natera, Inc. RCV000302464 SCV001453913 benign Deficiency of alpha-mannosidase 2020-06-16 no assertion criteria provided clinical testing

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