ClinVar Miner

Submissions for variant NM_000484.4:c.226-7082_355+12976del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust RCV003326064 SCV003853459 uncertain significance Familial focal epilepsy with variable foci 2023-03-23 criteria provided, single submitter clinical testing

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