ClinVar Miner

Submissions for variant NM_018718.3(CEP41):c.753C>T (p.Ser251=)

gnomAD frequency: 0.00001  dbSNP: rs200612684
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002088269 SCV002378676 likely benign Joubert syndrome 15 2022-11-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003434404 SCV004161072 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing CEP41: BP4, BP7

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