ClinVar Miner

Submissions for variant NM_001348768.2(HECW2):c.3980T>C (p.Phe1327Ser)

dbSNP: rs1687828601
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Statistical Genetics, Columbia University RCV001252514 SCV001519457 likely pathogenic Neurodevelopmental disorder with hypotonia, seizures, and absent language 2021-03-17 criteria provided, single submitter clinical testing
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252514 SCV001428271 likely pathogenic Neurodevelopmental disorder with hypotonia, seizures, and absent language 2019-01-01 no assertion criteria provided clinical testing

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