ClinVar Miner

Submissions for variant NM_002055.5(GFAP):c.290T>C (p.Leu97Pro)

dbSNP: rs59568967
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 RCV000056881 SCV000087994 not provided not provided no assertion provided not provided
GeneReviews RCV000192122 SCV000222983 not provided Alexander disease no assertion provided literature only

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