ClinVar Miner

Submissions for variant NM_020361.5(CPA6):c.1026C>G (p.Pro342=)

gnomAD frequency: 0.00013  dbSNP: rs372964579
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000513399 SCV000609309 uncertain significance not provided 2017-03-01 criteria provided, single submitter clinical testing
Invitae RCV001422870 SCV001625429 likely benign Febrile seizures, familial, 11 2021-07-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003925519 SCV004743966 likely benign CPA6-related condition 2019-09-13 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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