ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.3303C>T (p.Asp1101=)

gnomAD frequency: 0.00002  dbSNP: rs772181075
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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 RCV001407266 SCV001609233 likely benign Cortical dysplasia-focal epilepsy syndrome 2024-10-21 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001699539 SCV001926434 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001699539 SCV001974633 likely benign not provided no assertion criteria provided clinical testing

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