ClinVar Miner

Submissions for variant NM_002055.5(GFAP):c.1055T>C (p.Leu352Pro)

dbSNP: rs28932769
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 RCV000017561 SCV000037833 pathogenic Alexander disease 2003-10-14 no assertion criteria provided literature only
Epithelial Biology; Institute of Medical Biology, Singapore RCV000056820 SCV000087933 not provided not provided no assertion provided not provided
GeneReviews RCV000017561 SCV000223021 not provided Alexander disease no assertion provided literature only

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