ClinVar Miner

Submissions for variant NM_001348768.2(HECW2):c.4471G>C (p.Glu1491Gln)

dbSNP: rs1575235801
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000825013 SCV000966206 likely pathogenic Neurodevelopmental disorder with hypotonia, seizures, and absent language 2018-07-03 criteria provided, single submitter clinical testing

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