ClinVar Miner

Submissions for variant NM_018718.3(CEP41):c.575-14del

dbSNP: rs144531086
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243569 SCV000313265 benign not specified 2016-04-07 criteria provided, single submitter clinical testing
GeneDx RCV000243569 SCV000564863 benign not specified 2015-04-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001523126 SCV001732788 benign Joubert syndrome 15 2024-01-29 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000243569 SCV001929599 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727659 SCV001972856 likely benign not provided no assertion criteria provided clinical testing

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