ClinVar Miner

Submissions for variant NM_001037333.3(CYFIP2):c.1540C>T (p.Arg514Ter)

dbSNP: rs868243549
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001329522 SCV001520981 uncertain significance Developmental and epileptic encephalopathy, 65 2020-01-16 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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