ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.2785_2786del (p.Arg929fs)

dbSNP: rs281865471
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
OMIM RCV000024372 SCV000045665 pathogenic Koolen-de Vries syndrome 2012-04-29 no assertion criteria provided literature only
GeneReviews RCV000024372 SCV000055763 not provided Koolen-de Vries syndrome no assertion provided literature only

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