ClinVar Miner

Submissions for variant NM_003688.3:c.116_117delCA

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000415496 SCV000328360 pathogenic Syndromic X-linked intellectual disability Najm type 2016-09-03 criteria provided, single submitter clinical testing

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