ClinVar Miner

Submissions for variant NM_018718.3(CEP41):c.575-12T>C

gnomAD frequency: 0.00185  dbSNP: rs186638258
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000603529 SCV000715917 likely benign not specified 2018-01-23 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.
Invitae RCV001519766 SCV001728694 benign Joubert syndrome 15 2024-01-04 criteria provided, single submitter clinical testing

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