ClinVar Miner

Submissions for variant NM_001367624.1(ZNF469):c.3931C>T (p.Pro1311Ser) (rs187453092)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000487611 SCV000575068 uncertain significance not provided 2017-03-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000352903 SCV000399332 uncertain significance Corneal fragility keratoglobus, blue sclerae AND joint hypermobility 2016-06-14 criteria provided, single submitter clinical testing

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