ClinVar Miner

Submissions for variant NM_001375380.1(EBF3):c.491G>C (p.Cys164Ser)

dbSNP: rs2134610864
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001706846 SCV001934372 likely pathogenic Hypotonia, ataxia, and delayed development syndrome 2020-12-18 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed).

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