ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.114CGGCCT[4] (p.39GL[4])

dbSNP: rs1164121689
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665302 SCV000789396 uncertain significance Ellis-van Creveld syndrome 2017-01-27 criteria provided, single submitter clinical testing
GeneDx RCV001569378 SCV001793442 uncertain significance not provided 2021-05-24 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In-frame insertion of 2 amino acids
Fulgent Genetics, Fulgent Genetics RCV002493082 SCV002799516 uncertain significance Ellis-van Creveld syndrome; Curry-Hall syndrome 2021-07-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002493082 SCV002999843 uncertain significance Ellis-van Creveld syndrome; Curry-Hall syndrome 2022-07-12 criteria provided, single submitter clinical testing This variant, c.126_131dup, results in the insertion of 2 amino acid(s) of the EVC protein (p.Gly43_Leu44dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.4%). This variant has not been reported in the literature in individuals affected with EVC-related conditions. ClinVar contains an entry for this variant (Variation ID: 550534). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
PreventionGenetics, part of Exact Sciences RCV004751655 SCV005349700 likely benign EVC-related disorder 2024-04-04 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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