ClinVar Miner

Submissions for variant NM_030948.6(PHACTR1):c.1256G>C (p.Cys419Ser)

dbSNP: rs1468591163
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001263001 SCV001441072 likely benign Developmental and epileptic encephalopathy, 70 2019-01-01 criteria provided, single submitter clinical testing

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