ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.1563+1897C>T

gnomAD frequency: 0.16475  dbSNP: rs56328334
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pars Genome Lab RCV001527587 SCV001738686 benign Ellis-van Creveld syndrome 2021-06-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004716749 SCV005297768 benign not provided criteria provided, single submitter not provided

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