ClinVar Miner

Submissions for variant NM_001146079.2(CLDN14):c.273G>A (p.Ser91=)

gnomAD frequency: 0.00005  dbSNP: rs577393948
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000150342 SCV000197448 uncertain significance not specified 2014-07-01 criteria provided, single submitter clinical testing The Ser91Ser variant in CLDN14 has not been previously reported in individuals w ith hearing loss and was absent from large population studies. This variant does not alter the amino acid at this position, but computational tools suggest that this variant may introduce a splice site; though this information is not predic tive to determine pathogenicity. In summary, the clinical significance of the Se r91Ser variant is uncertain.
Invitae RCV000895619 SCV001039669 likely benign not provided 2023-08-30 criteria provided, single submitter clinical testing

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