ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.1169G>A (p.Arg390Gln)

gnomAD frequency: 0.00002  dbSNP: rs367655073
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594247 SCV000708703 uncertain significance not provided 2017-06-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001086905 SCV001021251 likely benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-01-26 criteria provided, single submitter clinical testing
GeneDx RCV000594247 SCV002569688 uncertain significance not provided 2022-09-15 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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