ClinVar Miner

Submissions for variant NM_001008537.3(NEXMIF):c.1456del (p.Val486fs)

dbSNP: rs2080113065
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
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 RCV001175153 SCV001337639 pathogenic X-linked intellectual disability, Cantagrel type criteria provided, single submitter clinical testing

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