ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.1111G>A (p.Glu371Lys)

gnomAD frequency: 0.00003  dbSNP: rs929810328
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centogene AG - the Rare Disease Company RCV001809284 SCV002059801 uncertain significance Ellis-van Creveld syndrome 2018-09-03 criteria provided, single submitter clinical testing

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