ClinVar Miner

Submissions for variant NM_001194998.2(CEP152):c.*231C>T

gnomAD frequency: 0.00006  dbSNP: rs531587783
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000369816 SCV000392820 uncertain significance Seckel syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000277560 SCV000392821 uncertain significance Primary Microcephaly, Recessive 2016-06-14 criteria provided, single submitter clinical testing

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