ClinVar Miner

Submissions for variant NM_001375380.1(EBF3):c.554G>A (p.Arg185Lys)

dbSNP: rs1554934855
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003237946 SCV002011256 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals RCV000578419 SCV000680116 likely pathogenic Hypotonia, ataxia, and delayed development syndrome 2017-07-02 no assertion criteria provided clinical testing

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