ClinVar Miner

Submissions for variant NM_002055.5(GFAP):c.1086G>C (p.Glu362Asp)

dbSNP: rs121909718
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000017559 SCV000037831 pathogenic Alexander disease 2002-05-28 no assertion criteria provided literature only
Epithelial Biology; Institute of Medical Biology, Singapore RCV000056825 SCV000087938 not provided not provided no assertion provided not provided
GeneReviews RCV000017559 SCV000223029 pathogenic Alexander disease 2015-01-08 no assertion criteria provided literature only

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