ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.1096T>C (p.Phe366Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002804480 SCV003597959 uncertain significance Inborn genetic diseases 2022-01-05 criteria provided, single submitter clinical testing The c.1096T>C (p.F366L) alteration is located in exon 8 (coding exon 8) of the CNTNAP2 gene. This alteration results from a T to C substitution at nucleotide position 1096, causing the phenylalanine (F) at amino acid position 366 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003143547 SCV003831103 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2022-07-27 criteria provided, single submitter clinical testing

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