ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.939+9C>T

gnomAD frequency: 0.00205  dbSNP: rs201282320
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500119 SCV000594606 likely benign not specified 2015-10-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000902045 SCV001046446 benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-05-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001810979 SCV001471714 benign not provided 2020-08-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001810979 SCV004147611 benign not provided 2022-08-01 criteria provided, single submitter clinical testing EVC: BS1, BS2
Natera, Inc. RCV001272632 SCV001454796 benign Ellis-van Creveld syndrome 2020-09-16 no assertion criteria provided clinical testing

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