ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.1280_1296del (p.Pro427fs) (rs1057517408)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411548 SCV000487233 likely pathogenic Deficiency of alpha-mannosidase 2016-11-01 criteria provided, single submitter clinical testing
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV001374658 SCV001571427 pathogenic Intellectual disability 2021-04-19 criteria provided, single submitter clinical testing Deletion causing a premature stop codon. In trans with another pathogenic variant. Previously described likely pathogenic in CLinVar, absent from gnomAD

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