ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.955del (p.Glu319fs)

dbSNP: rs397515567
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000055971 SCV000087019 not provided Cranioectodermal dysplasia 1 no assertion provided literature only
OMIM RCV000055971 SCV001441268 pathogenic Cranioectodermal dysplasia 1 2013-07-05 no assertion criteria provided literature only

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