ClinVar Miner

Submissions for variant NM_001375380.1(EBF3):c.291+2del

dbSNP: rs1859684125
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001334634 SCV001527532 pathogenic Hypotonia, ataxia, and delayed development syndrome 2018-07-19 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

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