ClinVar Miner

Submissions for variant NM_014991.6(WDFY3):c.8287C>T (p.Arg2763Ter)

dbSNP: rs750764507
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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 RCV001330590 SCV001522316 likely pathogenic Microcephaly 18, primary, autosomal dominant 2019-08-03 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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