ClinVar Miner

Submissions for variant NM_133171.5(ELMO2):c.963G>A (p.Arg321=)

gnomAD frequency: 0.01127  dbSNP: rs41310805
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001286097 SCV001472621 benign Primary intraosseous venous malformation 2023-08-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004717775 SCV005313963 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003973182 SCV004790803 benign ELMO2-related disorder 2019-05-10 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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