ClinVar Miner

Submissions for variant NM_002055.5(GFAP):c.619G>A (p.Glu207Lys)

dbSNP: rs267607500
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
Epithelial Biology; Institute of Medical Biology, Singapore RCV000056892 SCV000088005 not provided not provided no assertion provided not provided
GeneReviews RCV000192128 SCV000222989 not provided Alexander disease no assertion provided literature only

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