ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.698dup (p.His233fs)

dbSNP: rs1553867117
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664817 SCV000788832 likely pathogenic Ellis-van Creveld syndrome 2017-01-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001235220 SCV001407896 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2019-10-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in EVC are known to be pathogenic (PMID: 23220543). This variant has not been reported in the literature in individuals with EVC-related conditions. ClinVar contains an entry for this variant (Variation ID: 550151). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.His233Glnfs*9) in the EVC gene. It is expected to result in an absent or disrupted protein product.

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