ClinVar Miner

Submissions for variant NM_133171.5(ELMO2):c.1134G>A (p.Leu378=)

gnomAD frequency: 0.00264  dbSNP: rs8124302
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000953105 SCV001099655 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000953105 SCV004154639 likely benign not provided 2022-03-01 criteria provided, single submitter clinical testing ELMO2: BP4, BP7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003754894 SCV004564772 benign Primary intraosseous venous malformation 2023-11-01 criteria provided, single submitter clinical testing

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