ClinVar Miner

Submissions for variant NM_001830.4(CLCN4):c.1389+5G>A

dbSNP: rs879255590
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sydney Children's Hospital, SCHN RCV000239731 SCV000266304 pathogenic CLCN4-related disorder 2016-03-22 criteria provided, single submitter clinical testing Inherited from asymptomatic mother. Clinical features consistent with case series of individuals with CLCN4 related disorder.
CeGaT Center for Human Genetics Tuebingen RCV000999316 SCV001155887 uncertain significance not provided 2017-04-01 criteria provided, single submitter clinical testing

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