ClinVar Miner

Submissions for variant NM_001375380.1(EBF3):c.947dup (p.Pro317fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV002290097 SCV002581794 likely pathogenic Hypotonia, ataxia, and delayed development syndrome 2022-08-22 criteria provided, single submitter clinical testing

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