ClinVar Miner

Submissions for variant NM_052988.5(CDK10):c.609-1G>A

gnomAD frequency: 0.00004  dbSNP: rs767176610
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000508995 SCV001736934 pathogenic Al Kaissi syndrome criteria provided, single submitter clinical testing
GeneDx RCV003313089 SCV004012427 likely pathogenic not provided 2024-01-26 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in an in-frame loss of the adjacent exon in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 28886341, 37895316, 34582081)
Molecular Genetics Lab, CHRU Brest RCV000508995 SCV004697658 pathogenic Al Kaissi syndrome criteria provided, single submitter clinical testing
OMIM RCV000508995 SCV000606746 pathogenic Al Kaissi syndrome 2017-09-29 no assertion criteria provided literature only

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