ClinVar Miner

Submissions for variant NM_002016.2(FLG):c.8166G>A (p.Glu2722=)

gnomAD frequency: 0.00057  dbSNP: rs368624506
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001795661 SCV002035105 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001796931 SCV002037827 benign not specified no assertion criteria provided clinical testing

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