ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.2077G>A (p.Val693Ile)

gnomAD frequency: 0.00009  dbSNP: rs199824658
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000970010 SCV001117564 benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-01-31 criteria provided, single submitter clinical testing
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital RCV001731998 SCV001984650 benign Ellis-van Creveld syndrome 2020-06-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000970010 SCV002807313 likely benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2022-04-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003456464 SCV004185212 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing EVC2: BP4, BS2
PreventionGenetics, part of Exact Sciences RCV003960819 SCV004769416 likely benign EVC2-related condition 2022-08-22 criteria provided, single submitter 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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