ClinVar Miner

Submissions for variant NM_001385026.1(PEAK1):c.4776G>A (p.Glu1592=)

gnomAD frequency: 0.00005  dbSNP: rs377595863
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003981706 SCV004793010 likely benign PEAK1-related disorder 2020-03-09 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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