ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.802-15del

gnomAD frequency: 0.10885  dbSNP: rs369153323
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704773 SCV000729025 benign not provided 2018-04-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498970 SCV002809336 benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2022-04-21 criteria provided, single submitter clinical testing
Invitae RCV002498970 SCV004597187 benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2023-09-29 criteria provided, single submitter clinical testing

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