ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.1471-6C>T

gnomAD frequency: 0.00162  dbSNP: rs115466792
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000337976 SCV000335414 likely benign not specified 2015-10-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000950917 SCV001097262 benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2025-01-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000950917 SCV002808889 likely benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2022-04-05 criteria provided, single submitter clinical testing
GeneDx RCV004721325 SCV005328217 uncertain significance not provided 2023-12-04 criteria provided, single submitter clinical testing In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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