ClinVar Miner

Submissions for variant NM_002055.5(GFAP):c.1070T>C (p.Leu357Pro)

dbSNP: rs267607515
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000056821 SCV001447063 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Epithelial Biology; Institute of Medical Biology, Singapore RCV000056821 SCV000087934 not provided not provided no assertion provided not provided
GeneReviews RCV000192157 SCV000223022 pathogenic Alexander disease 2015-01-08 no assertion criteria provided literature only

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