ClinVar Miner

Submissions for variant NM_002055.5(GFAP):c.1171+472G>C

dbSNP: rs748860341
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198883 SCV001369878 uncertain significance Alexander disease 2020-04-01 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PP3,PP2.
Labcorp Genetics (formerly Invitae), Labcorp RCV002560258 SCV002981696 likely benign not provided 2023-08-04 criteria provided, single submitter clinical testing

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