ClinVar Miner

Submissions for variant NM_002055.5(GFAP):c.715C>G (p.Arg239Gly)

dbSNP: rs58064122
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000517981 SCV000613474 uncertain significance not specified 2017-05-10 criteria provided, single submitter clinical testing
GeneReviews RCV000192135 SCV000222996 not provided Alexander disease no assertion provided literature only

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