ClinVar Miner

Submissions for variant NM_001199107.2(TBC1D24):c.*1C>T

gnomAD frequency: 0.00035  dbSNP: rs370047688
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002312756 SCV000847146 uncertain significance Inborn genetic diseases 2016-08-17 criteria provided, single submitter clinical testing The c.*1C>T variant is located in the 3' untranslated region (3’ UTR) of the TBC1D24 gene. This variant results from a C to T substitution in the last translated codon. This nucleotide position is not well conserved in available vertebrate species and T is the reference nucleotide in several species. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.

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