ClinVar Miner

Submissions for variant NM_000400.4(ERCC2):c.1361TCA[2] (p.Ile456del) (rs750123656)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital RCV000761139 SCV000891055 likely pathogenic Craniopharyngioma 2017-03-02 criteria provided, single submitter clinical testing

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