ClinVar Miner

Submissions for variant NM_133171.5(ELMO2):c.1416+9C>G

gnomAD frequency: 0.00002  dbSNP: rs770529533
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002227375 SCV002506281 likely benign Primary intraosseous venous malformation 2022-02-11 criteria provided, single submitter clinical testing

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