ClinVar Miner

Submissions for variant NM_014679.5(CEP57):c.729T>C (p.Leu243=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003396027 SCV004131317 likely benign not provided 2022-03-01 criteria provided, single submitter clinical testing CEP57: BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV003528472 SCV004279359 likely benign Mosaic variegated aneuploidy syndrome 2 2022-11-29 criteria provided, single submitter clinical testing

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