ClinVar Miner

Submissions for variant NM_018249.6(CDK5RAP2):c.5452-8C>T

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002765397 SCV003016491 likely benign not provided 2022-07-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003418600 SCV004106618 uncertain significance CDK5RAP2-related disorder 2023-09-15 criteria provided, single submitter clinical testing The CDK5RAP2 c.5452-8C>T variant is predicted to interfere with splicing. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0026% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/9-123156924-G-A). This variant could be benign. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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