ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.122C>A (p.Pro41His) (rs544397395)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000252966 SCV000224700 likely benign not specified 2016-07-01 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000252966 SCV000316117 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000267094 SCV000450113 uncertain significance Ellis-van Creveld syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000387924 SCV000484084 likely benign Curry-Hall syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000267094 SCV000484085 likely benign Ellis-van Creveld syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000252966 SCV000729108 likely benign not specified 2017-06-05 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.
Invitae RCV000637047 SCV000758495 benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000252966 SCV001157352 likely benign not specified 2019-04-26 criteria provided, single submitter clinical testing

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