ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.134G>A (p.Trp45Ter)

dbSNP: rs1553857995
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674011 SCV000799280 likely pathogenic Ellis-van Creveld syndrome 2018-04-09 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003144475 SCV003830773 likely pathogenic not provided 2022-04-13 criteria provided, single submitter clinical testing

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