ClinVar Miner

Submissions for variant NM_002055.5(GFAP):c.329C>G (p.Thr110Ser)

gnomAD frequency: 0.00020  dbSNP: rs147282497
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV000363054 SCV000895106 uncertain significance Alexander disease 2018-10-31 criteria provided, single submitter clinical testing
New York Genome Center RCV000363054 SCV002097752 uncertain significance Alexander disease 2020-07-10 criteria provided, single submitter clinical testing
Invitae RCV000675417 SCV002350511 likely benign not provided 2024-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000675417 SCV002545942 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing GFAP: BP4, BS1
Mayo Clinic Laboratories, Mayo Clinic RCV000675417 SCV000801095 uncertain significance not provided 2017-10-26 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000675417 SCV001739671 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000675417 SCV001974252 likely benign not provided no assertion criteria provided clinical testing

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