ClinVar Miner

Submissions for variant NM_000082.3(ERCC8):c.300C>G (p.Tyr100Ter) (rs143367518)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000412151 SCV000486478 likely pathogenic Cockayne syndrome type A 2016-11-03 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726626 SCV000701823 pathogenic not provided 2016-11-03 criteria provided, single submitter clinical testing

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