ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.9911G>A (p.Arg3304Gln)

gnomAD frequency: 0.00079  dbSNP: rs149859034
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145242 SCV000192299 uncertain significance Microcephaly 5, primary, autosomal recessive 2013-02-08 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000176582 SCV000228259 likely benign not specified 2015-04-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000991554 SCV001143081 likely benign not provided 2018-11-29 criteria provided, single submitter clinical testing
Invitae RCV000991554 SCV002494004 likely benign not provided 2023-11-07 criteria provided, single submitter clinical testing
Revvity Omics, Revvity Omics RCV000145242 SCV003825128 uncertain significance Microcephaly 5, primary, autosomal recessive 2019-04-10 criteria provided, single submitter clinical testing

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