ClinVar Miner

Submissions for variant NM_182758.4(WDR72):c.2607C>A (p.Asp869Glu)

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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 RCV002823552 SCV003614228 uncertain significance Inborn genetic diseases 2022-04-07 criteria provided, single submitter clinical testing The c.2607C>A (p.D869E) alteration is located in exon 15 (coding exon 14) of the WDR72 gene. This alteration results from a C to A substitution at nucleotide position 2607, causing the aspartic acid (D) at amino acid position 869 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005011134 SCV005638140 uncertain significance Amelogenesis imperfecta hypomaturation type 2A3 2024-03-25 criteria provided, single submitter clinical testing

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