ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.8751C>T (p.Phe2917=)

gnomAD frequency: 0.00001  dbSNP: rs529713209
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001446851 SCV001649904 likely benign not provided 2025-01-15 criteria provided, single submitter clinical testing
GeneDx RCV001446851 SCV005441163 uncertain significance not provided 2024-06-25 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.

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