ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.1886+5G>T (rs794726665)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000438781 SCV000520945 pathogenic not provided 2018-11-01 criteria provided, single submitter clinical testing The c.1886+5 G>T splice site variant in the EVC gene is an Amish founder variant and has been previously reported in association with Ellis-Van Creveld syndrome (Ruiz-Perez et al., 2000; D'Asdia et al., 2013; Chowdhury et al., 2017). The variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). This variant destroys the splice donor site in intron 13, and leads to abnormal gene splicing (Tompson et al., 2007). We consider this variant to be pathogenic.
OMIM RCV000005666 SCV000025848 pathogenic Ellis-van Creveld syndrome 2000-03-01 no assertion criteria provided literature only
Dan Cohn Lab,University Of California Los Angeles RCV000516013 SCV000612081 pathogenic Short rib-polydactyly syndrome, Majewski type 2017-06-01 no assertion criteria provided research
Counsyl RCV000005666 SCV000798161 pathogenic Ellis-van Creveld syndrome 2018-02-27 no assertion criteria provided clinical testing

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