ClinVar Miner

Submissions for variant NM_002055.5(GFAP):c.247T>C (p.Tyr83His)

dbSNP: rs267607506
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 RCV000056872 SCV000087985 not provided not provided no assertion provided not provided
GeneReviews RCV000192114 SCV000222973 not provided Alexander disease no assertion provided literature only

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