ClinVar Miner

Submissions for variant NM_014991.6(WDFY3):c.9326C>T (p.Thr3109Ile)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002939775 SCV003663056 uncertain significance Inborn genetic diseases 2021-06-21 criteria provided, single submitter clinical testing The c.9326C>T (p.T3109I) alteration is located in exon 61 (coding exon 58) of the WDFY3 gene. This alteration results from a C to T substitution at nucleotide position 9326, causing the threonine (T) at amino acid position 3109 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003492813 SCV004237536 uncertain significance Microcephaly 18, primary, autosomal dominant 2023-08-03 criteria provided, single submitter clinical testing

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