ClinVar Miner

Submissions for variant NM_002055.5(GFAP):c.667G>C (p.Glu223Gln)

gnomAD frequency: 0.00027  dbSNP: rs56679084
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000192131 SCV001140668 uncertain significance Alexander disease 2019-05-28 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000192131 SCV001369932 uncertain significance Alexander disease 2019-01-28 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,PM1,PP5.
Labcorp Genetics (formerly Invitae), Labcorp RCV000056895 SCV002294229 benign not provided 2025-01-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000056895 SCV002545940 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing GFAP: BS2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV000192131 SCV002766799 likely benign Alexander disease 2022-03-31 criteria provided, single submitter clinical testing Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as likely benign. Following criteria are met: 0308 - Population frequency for this variant is out of keeping with known incidence of Alexander disease (MIM#203450). (SB) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign
Breakthrough Genomics, Breakthrough Genomics RCV000056895 SCV005192918 uncertain significance not provided criteria provided, single submitter not provided
Epithelial Biology; Institute of Medical Biology, Singapore RCV000056895 SCV000088008 not provided not provided no assertion provided not provided
GeneReviews RCV000192131 SCV000222992 pathogenic Alexander disease 2015-01-08 no assertion criteria provided literature only

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