ClinVar Miner

Submissions for variant NM_001164760.2(PRKAR1B):c.984A>G (p.Ala328=)

gnomAD frequency: 0.02094  dbSNP: rs28626752
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001727914 SCV001809612 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727914 SCV001968576 benign not specified no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003921246 SCV004729664 benign PRKAR1B-related disorder 2019-08-02 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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