ClinVar Miner

Submissions for variant NM_002055.5(GFAP):c.*28C>G

gnomAD frequency: 0.27601  dbSNP: rs11558961
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000401615 SCV000483589 likely benign Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000056816 SCV001866453 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29746255)
Epithelial Biology; Institute of Medical Biology, Singapore RCV000056816 SCV000087929 not provided not provided no assertion provided not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000056816 SCV000801084 benign not provided 2015-10-23 no assertion criteria provided clinical testing

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