ClinVar Miner

Submissions for variant NM_002055.5(GFAP):c.208C>T (p.Arg70Trp)

dbSNP: rs60343255
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Laboratory Medicine, Soonchunhyang University Seoul Hospital RCV000192100 SCV000833703 pathogenic Alexander disease 2018-08-10 criteria provided, single submitter clinical testing
Mendelics RCV000192100 SCV001140670 pathogenic Alexander disease 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000056855 SCV001250439 pathogenic not provided 2019-07-01 criteria provided, single submitter clinical testing
Epithelial Biology; Institute of Medical Biology, Singapore RCV000056855 SCV000087968 not provided not provided no assertion provided not provided
GeneReviews RCV000192100 SCV000222954 not provided Alexander disease no assertion provided literature only

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