ClinVar Miner

Submissions for variant NM_018718.3(CEP41):c.786G>A (p.Pro262=)

gnomAD frequency: 0.00005  dbSNP: rs782460743
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248519 SCV000313266 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000261588 SCV000466824 uncertain significance Familial aplasia of the vermis 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000248519 SCV000534021 likely benign not specified 2016-11-25 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 RCV001452020 SCV001655666 likely benign Joubert syndrome 15 2023-08-04 criteria provided, single submitter clinical testing

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