ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.752dup (p.Lys252fs)

dbSNP: rs1553871792
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672688 SCV000797821 likely pathogenic Ellis-van Creveld syndrome 2018-02-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001383028 SCV001582036 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2022-06-29 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with Ellis-van Creveld syndrome (PMID: 23220543). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys252Glufs*4) in the EVC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EVC are known to be pathogenic (PMID: 23220543). ClinVar contains an entry for this variant (Variation ID: 556656). For these reasons, this variant has been classified as Pathogenic.
Natera, Inc. RCV000672688 SCV002083018 pathogenic Ellis-van Creveld syndrome 2020-12-23 no assertion criteria provided clinical testing

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