ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.1098+12G>C

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003490815 SCV004240881 likely benign not specified 2023-12-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003779289 SCV004610496 likely benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-06-14 criteria provided, single submitter clinical testing

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