ClinVar Miner

Submissions for variant NM_014991.6(WDFY3):c.1150T>G (p.Phe384Val)

dbSNP: rs1754056228
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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 RCV001328824 SCV001520045 uncertain significance Microcephaly 18, primary, autosomal dominant 2020-11-13 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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