ClinVar Miner

Submissions for variant NM_020361.5(CPA6):c.-11_-10del

gnomAD frequency: 0.00031  dbSNP: rs531326049
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000282246 SCV000474759 uncertain significance Familial temporal lobe epilepsy 2 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003970068 SCV004776428 likely benign CPA6-related condition 2020-02-26 criteria provided, single submitter 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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