ClinVar Miner

Submissions for variant NM_000124.3(ERCC6):c.1518delG (p.Lys506Asnfs) (rs786205168)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Miraca Genetics Laboratories, RCV000170368 SCV000807214 pathogenic Cockayne syndrome B 2017-09-01 criteria provided, single submitter clinical testing This mutation has been previously reported as disease-causing and was found once in our laboratory in trans with another pathogenic mutation in a 8-month-old female with global delays, microcephaly, congenital cataracts, failure to thrive, hypotonia, micrognathia
Claritas Genomics RCV000170368 SCV000222783 likely pathogenic Cockayne syndrome B 2013-08-26 criteria provided, single submitter clinical testing
OMIM RCV000170368 SCV000021927 pathogenic Cockayne syndrome B 1998-01-01 no assertion criteria provided literature only

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