ClinVar Miner

Submissions for variant NM_182758.4(WDR72):c.2265T>A (p.Asn755Lys)

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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 RCV004480638 SCV004979851 uncertain significance Inborn genetic diseases 2023-03-01 criteria provided, single submitter clinical testing The c.2265T>A (p.N755K) alteration is located in exon 15 (coding exon 14) of the WDR72 gene. This alteration results from a T to A substitution at nucleotide position 2265, causing the asparagine (N) at amino acid position 755 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005006418 SCV005638154 uncertain significance Amelogenesis imperfecta hypomaturation type 2A3 2024-01-20 criteria provided, single submitter clinical testing

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