ClinVar Miner

Submissions for variant NM_004523.4(KIF11):c.131A>G (p.Asp44Gly)

dbSNP: rs1844430488
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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 RCV001331250 SCV001523249 uncertain significance Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 2019-11-20 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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