ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.1313del (p.Leu438fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002310223 SCV002602204 likely pathogenic Ellis-van Creveld syndrome 2021-12-18 criteria provided, single submitter clinical testing NM_147127.4(EVC2):c.1313delT(L438Cfs*17) is expected to be pathogenic in the context of EVC2-related Ellis-van Creveld syndrome. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in EVC2, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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