ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.1315+8G>A

gnomAD frequency: 0.00001  dbSNP: rs550411377
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000593614 SCV000702682 uncertain significance not provided 2016-11-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001088560 SCV001060476 likely benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-07-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273621 SCV001456824 likely benign Ellis-van Creveld syndrome 2020-09-16 no assertion criteria provided clinical testing

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