ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.2321_2322del (p.Lys774fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory Cellgenetics, GMDL Cellgenetics RCV003883232 SCV004697462 pathogenic Cockayne syndrome type 2 criteria provided, single submitter clinical testing

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