ClinVar Miner

Submissions for variant NM_133171.5(ELMO2):c.1802-1G>C (rs886037918)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000240827 SCV001521901 likely pathogenic Vascular malformation, primary intraosseous 2020-07-16 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
OMIM RCV000240827 SCV000299315 pathogenic Vascular malformation, primary intraosseous 2016-09-13 no assertion criteria provided literature only

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