ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.1711-11_1711-10del

dbSNP: rs35103377
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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) RCV000174421 SCV000225717 benign not specified 2015-04-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000878295 SCV001021176 benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-01-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272631 SCV001454786 benign Ellis-van Creveld syndrome 2020-09-16 no assertion criteria provided clinical testing

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