ClinVar Miner

Submissions for variant NC_000007.14:g.107660793C>T

dbSNP: rs17154282
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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 RCV000036417 SCV000060072 likely benign not specified 2012-01-20 criteria provided, single submitter clinical testing The -66C>T variant in the 5?UTR of SLC26A4: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not l ocated within a splice consensus sequence, and another base change at this site, -66C>G, has been observed as a common benign variant (rs17154282).
GeneDx RCV004724762 SCV005334611 uncertain significance not provided 2023-10-26 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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