ClinVar Miner

Submissions for variant NM_024596.5(MCPH1):c.2215-19A>G (rs2936531)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000146298 SCV000202994 benign not specified 2014-04-10 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000602208 SCV000744350 benign Primary autosomal recessive microcephaly 1 2015-09-21 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000146298 SCV000193564 likely benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000602208 SCV000734617 benign Primary autosomal recessive microcephaly 1 no assertion criteria provided clinical testing

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