ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.7074A>G (p.Lys2358=)

gnomAD frequency: 0.00004  dbSNP: rs587783262
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
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 RCV000145176 SCV000192225 uncertain significance Microcephaly 5, primary, autosomal recessive 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV000886469 SCV001029976 likely benign not provided 2017-09-25 criteria provided, single submitter clinical testing

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