ClinVar Miner

Submissions for variant NM_015267.4(CUX2):c.4297C>T (p.Pro1433Ser)

gnomAD frequency: 0.00001  dbSNP: rs761281334
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV002211242 SCV002497635 uncertain significance not provided 2022-03-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003146522 SCV003830349 uncertain significance Developmental and epileptic encephalopathy, 67 2022-07-14 criteria provided, single submitter clinical testing

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