ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.*2126T>G (rs191415414)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000375582 SCV000450453 likely benign Curry-Hall syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000281172 SCV000450454 likely benign Ellis-van Creveld Syndrome 2016-06-14 criteria provided, single submitter clinical testing

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