ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.215_216del (p.His72fs)

dbSNP: rs2145290706
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV001376179 SCV001571478 pathogenic Craniosynostosis syndrome; Intellectual disability 2021-04-19 criteria provided, single submitter clinical testing truncating variant absent from gnomad. In trans with another pathogenic variant

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