ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.2925A>C (p.Glu975Asp)

dbSNP: rs1399872123
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Natera, Inc. RCV001278324 SCV001465324 uncertain significance Ellis-van Creveld syndrome 2020-09-04 no assertion criteria provided clinical testing

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