ClinVar Miner

Submissions for variant NM_001220.5(CAMK2B):c.1311G>A (p.Pro437=)

gnomAD frequency: 0.00051  dbSNP: rs575970166
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002206438 SCV002492992 benign not provided 2024-01-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002206438 SCV005051423 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing CAMK2B: BP4, BP7, BS1
PreventionGenetics, part of Exact Sciences RCV003896069 SCV004716672 likely benign CAMK2B-related disorder 2023-09-20 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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