ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.919T>C (p.Ser307Pro) (rs121908426)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics,Klinikum rechts der Isar RCV000005672 SCV000680219 pathogenic Ellis-van Creveld syndrome 2017-12-09 criteria provided, single submitter clinical testing
Counsyl RCV000005672 SCV000789079 likely pathogenic Ellis-van Creveld syndrome 2017-01-05 criteria provided, single submitter clinical testing
OMIM RCV000005672 SCV000025853 pathogenic Ellis-van Creveld syndrome 2013-02-01 no assertion criteria provided literature only

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