ClinVar Miner

Submissions for variant NM_014991.6(WDFY3):c.2347C>T (p.Arg783Cys)

gnomAD frequency: 0.00004  dbSNP: rs775542349
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003142228 SCV003823690 uncertain significance Microcephaly 18, primary, autosomal dominant 2022-08-04 criteria provided, single submitter clinical testing
New York Genome Center RCV001255021 SCV001431111 uncertain significance Autism; Focal-onset seizure; Intellectual disability 2019-11-12 no assertion criteria provided clinical testing

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