ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.850_851insT (p.Glu284fs)

dbSNP: rs797045562
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194098 SCV000247319 pathogenic Cockayne syndrome type 2 2015-02-23 criteria provided, single submitter clinical testing

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