ClinVar Miner

Submissions for variant NM_002739.5(PRKCG):c.1284C>T (p.Asp428=)

gnomAD frequency: 0.00015  dbSNP: rs147817906
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573547 SCV001799577 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001573547 SCV001965883 likely benign not provided no assertion criteria provided clinical testing

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