ClinVar Miner

Submissions for variant NM_025009.5(CEP135):c.203T>C (p.Leu68Ser)

gnomAD frequency: 0.00007  dbSNP: rs147697562
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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 RCV000194426 SCV000246973 uncertain significance not specified 2015-06-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002054258 SCV002484039 likely benign not provided 2024-03-04 criteria provided, single submitter clinical testing

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