ClinVar Miner

Submissions for variant NM_002055.5(GFAP):c.218T>C (p.Met73Thr)

dbSNP: rs61060395
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
Mendelics RCV000192103 SCV001140669 pathogenic Alexander disease 2019-05-28 criteria provided, single submitter clinical testing
GeneReviews RCV000192103 SCV000222957 not provided Alexander disease no assertion provided literature only

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