ClinVar Miner

Submissions for variant NM_002055.5(GFAP):c.96T>C (p.Gly32=)

gnomAD frequency: 0.00908  dbSNP: rs60045579
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000439185 SCV000513134 benign not specified 2016-01-04 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000056916 SCV001109611 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000056916 SCV001144054 benign not provided 2018-11-21 criteria provided, single submitter clinical testing
Epithelial Biology; Institute of Medical Biology, Singapore RCV000056916 SCV000088029 not provided not provided no assertion provided not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000056916 SCV002036487 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000439185 SCV002038061 benign not specified no assertion criteria provided clinical testing

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