ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.982C>T (p.Leu328Phe) (rs199916502)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000673224 SCV000450230 likely benign Ellis-van Creveld syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000295413 SCV000450231 likely benign Curry-Hall syndrome 2016-06-14 criteria provided, single submitter clinical testing
Counsyl RCV000673224 SCV000798402 uncertain significance Ellis-van Creveld syndrome 2018-03-08 criteria provided, single submitter clinical testing
Invitae RCV000894732 SCV001038735 likely benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2019-12-31 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.