ClinVar Miner

Submissions for variant NM_001375380.1(EBF3):c.1151C>T (p.Ala384Val)

dbSNP: rs1268207836
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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 RCV001331434 SCV001523471 likely pathogenic Hypotonia, ataxia, and delayed development syndrome 2020-12-03 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

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