ClinVar Miner

Submissions for variant NM_004426.3(PHC1):c.2726G>A (p.Gly909Glu)

gnomAD frequency: 0.00067  dbSNP: rs141256799
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000499680 SCV000596413 uncertain significance not specified 2016-04-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003979896 SCV004788291 likely benign PHC1-related disorder 2024-04-15 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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