ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.2449+10C>A

dbSNP: rs758387379
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000369705 SCV000335051 uncertain significance not provided 2015-09-25 criteria provided, single submitter clinical testing
Invitae RCV001086991 SCV001021634 likely benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-01-18 criteria provided, single submitter clinical testing

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