ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.7873-8C>G

dbSNP: rs376526400
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001764077 SCV002000378 uncertain significance not provided 2021-04-13 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Labcorp Genetics (formerly Invitae), Labcorp RCV001764077 SCV004431960 likely benign not provided 2023-06-05 criteria provided, single submitter clinical testing

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