ClinVar Miner

Submissions for variant NM_024596.5(MCPH1):c.2452+9C>A

gnomAD frequency: 0.00011  dbSNP: rs200446680
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146316 SCV000193582 uncertain significance Microcephaly 1, primary, autosomal recessive 2013-02-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002055902 SCV002392548 likely benign not provided 2024-10-07 criteria provided, single submitter clinical testing

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