ClinVar Miner

Submissions for variant NM_024596.5(MCPH1):c.128T>C (p.Phe43Ser) (rs587783733)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000371509 SCV000345688 uncertain significance not provided 2016-08-29 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000146272 SCV000193537 likely pathogenic Primary autosomal recessive microcephaly 1 2013-02-08 criteria provided, single submitter clinical testing

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