ClinVar Miner

Submissions for variant NM_182758.4(WDR72):c.2228C>T (p.Ala743Val)

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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 RCV004678327 SCV005179956 uncertain significance Inborn genetic diseases 2024-05-02 criteria provided, single submitter clinical testing The c.2228C>T (p.A743V) alteration is located in exon 15 (coding exon 14) of the WDR72 gene. This alteration results from a C to T substitution at nucleotide position 2228, causing the alanine (A) at amino acid position 743 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005006485 SCV005638157 uncertain significance Amelogenesis imperfecta hypomaturation type 2A3 2024-02-19 criteria provided, single submitter clinical testing

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