ClinVar Miner

Submissions for variant NM_152869.4(RGN):c.453C>G (p.Asp151Glu)

gnomAD frequency: 0.00039  dbSNP: rs138747840
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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 RCV001528603 SCV001740588 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727868 SCV001974085 benign not specified no assertion criteria provided clinical testing

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