ClinVar Miner

Submissions for variant NM_002055.5(GFAP):c.1117G>A (p.Glu373Lys)

dbSNP: rs58075601
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000056833 SCV000516723 pathogenic not provided 2019-08-09 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 15732097, 22302460, 12801639, 20301351, 12034785, 18402384)
Epithelial Biology; Institute of Medical Biology, Singapore RCV000056833 SCV000087946 not provided not provided no assertion provided not provided
GeneReviews RCV000192173 SCV000223039 not provided Alexander disease no assertion provided literature only

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