ClinVar Miner

Submissions for variant NM_002055.5(GFAP):c.827G>T (p.Arg276Leu)

dbSNP: rs121909719
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000017560 SCV000037832 pathogenic Alexander disease 2002-12-01 no assertion criteria provided literature only
Epithelial Biology; Institute of Medical Biology, Singapore RCV000056910 SCV000088023 not provided not provided no assertion provided not provided
GeneReviews RCV000017560 SCV000223012 not provided Alexander disease no assertion provided literature only

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