ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.1006-12A>G

gnomAD frequency: 0.00001  dbSNP: rs1205381388
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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 RCV001893503 SCV002167959 uncertain significance Ellis-van Creveld syndrome; Curry-Hall syndrome 2021-04-01 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with EVC2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 8 of the EVC2 gene. It does not directly change the encoded amino acid sequence of the EVC2 protein.

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