ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.-10-22T>C

dbSNP: rs1848984628
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001302672 SCV001491890 uncertain significance Beckwith-Wiedemann syndrome 2023-02-23 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ClinVar contains an entry for this variant (Variation ID: 1005743). This variant has not been reported in the literature in individuals affected with CDKN1C-related conditions. This sequence change affects the initiator methionine of the CDKN1C mRNA. The next in-frame methionine is located at codon 12.

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