ClinVar Miner

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

gnomAD frequency: 0.45478  dbSNP: rs2936531
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD LLC (GA) RCV000146298 SCV000202994 benign not specified 2014-04-10 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000602208 SCV000744350 benign Microcephaly 1, primary, autosomal recessive 2015-09-21 criteria provided, single submitter clinical testing
GeneDx RCV001711407 SCV001940540 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000602208 SCV002014133 benign Microcephaly 1, primary, autosomal recessive 2021-09-05 criteria provided, single submitter clinical testing
Invitae RCV001711407 SCV002421417 benign not provided 2021-12-10 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 Microcephaly 1, primary, autosomal recessive no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000146298 SCV001953276 benign not specified no assertion criteria provided clinical testing

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