ClinVar Miner

Submissions for variant NM_001194998.2(CEP152):c.2777A>T (p.Glu926Val) (rs117557829)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145617 SCV000192714 uncertain significance Primary autosomal recessive microcephaly 9 2013-02-08 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000709779 SCV000840102 not provided Seckel syndrome 5; Primary autosomal recessive microcephaly 9 no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Illumina Clinical Services Laboratory,Illumina RCV000287410 SCV000392876 uncertain significance Primary Microcephaly, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000344690 SCV000392877 uncertain significance Seckel syndrome 2016-06-14 criteria provided, single submitter clinical testing

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