ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.-19T>C

gnomAD frequency: 0.00949  dbSNP: rs188508515
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000263421 SCV000450116 likely benign Ellis-van Creveld syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000341424 SCV000484092 likely benign Curry-Hall syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000263421 SCV000484093 likely benign Ellis-van Creveld syndrome 2016-06-14 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000597121 SCV000702626 benign not specified 2016-10-18 criteria provided, single submitter clinical testing
GeneDx RCV000597121 SCV000729655 benign not specified 2018-02-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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