ClinVar Miner

Submissions for variant NM_017917.4(PPP2R3C):c.-9A>G

gnomAD frequency: 0.38007  dbSNP: rs1056879
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001789587 SCV002031817 benign Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789588 SCV002031818 benign Spermatogenic failure 36 2021-10-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004715552 SCV005297348 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003984106 SCV004799499 benign PPP2R3C-related disorder 2019-11-04 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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