ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.1954A>G (p.Ile652Val)

gnomAD frequency: 0.00294  dbSNP: rs144670544
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001712399 SCV000533983 benign not provided 2019-12-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000877853 SCV001020652 benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2025-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001712399 SCV005304769 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003902616 SCV004720916 benign EVC2-related disorder 2019-03-08 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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