ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.2391C>T (p.Ile797=) (rs202236029)

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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 RCV000332985 SCV000450323 uncertain significance Ellis-van Creveld Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000371207 SCV000450324 uncertain significance Curry-Hall syndrome 2016-06-14 criteria provided, single submitter clinical testing

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