ClinVar Miner

Submissions for variant NM_020361.4(CPA6):c.-269G>A

gnomAD frequency: 0.65179  dbSNP: rs2553663
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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 RCV000361868 SCV000484344 likely benign Familial temporal lobe epilepsy 2 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004705521 SCV005221628 likely benign not provided criteria provided, single submitter not provided

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