ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.2376del (p.Tyr793fs)

dbSNP: rs1577638781
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cancer Diagnostics Division, Gene Solutions RCV000991074 SCV001142201 pathogenic Ellis-van Creveld syndrome 2019-05-04 criteria provided, single submitter research Carrier of this mutation and another mutation (as compound heterozygote) was reported with typical Ellis-van Creveld syndrome at prenatal stage and at delivery. Fatherr is a carrier of this mutation but expressed no symptom of Ellis-van Creveld syndrome (05/04/2019).

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