ClinVar Miner

Submissions for variant NM_004064.5(CDKN1B):c.-32G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004775116 SCV005385827 uncertain significance not provided 2024-01-31 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Nucleotide is not conserved across species and the substitution has no predicted effect on splicing; Has not been previously published as pathogenic or benign to our knowledge

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