ClinVar Miner

Submissions for variant NM_007272.3(CTRC):c.-2C>T

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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 RCV003382230 SCV004097945 uncertain significance Hereditary pancreatitis 2023-08-07 criteria provided, single submitter clinical testing The c.-2C>T variant is located in the 5' untranslated region (5’ UTR) of the CTRC gene. This variant results from a C to T substitution 2 bases upstream from the first translated codon. This nucleotide position is poorly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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