ClinVar Miner

Submissions for variant NM_014991.6(WDFY3):c.336A>G (p.Leu112=)

gnomAD frequency: 0.42154  dbSNP: rs2046402
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001537269 SCV001754131 benign not provided 2018-10-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002243297 SCV002514730 benign Microcephaly 18, primary, autosomal dominant 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001537269 SCV005301008 benign not provided criteria provided, single submitter not provided

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