ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.3010+12C>T

gnomAD frequency: 0.00002  dbSNP: rs371009902
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000251202 SCV000312070 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV003765533 SCV004680229 likely benign Cortical dysplasia-focal epilepsy syndrome 2023-09-10 criteria provided, single submitter clinical testing

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