ClinVar Miner

Submissions for variant NM_182758.4(WDR72):c.517G>A (p.Asp173Asn)

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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 RCV004678318 SCV005179945 uncertain significance Inborn genetic diseases 2024-04-12 criteria provided, single submitter clinical testing The c.517G>A (p.D173N) alteration is located in exon 6 (coding exon 5) of the WDR72 gene. This alteration results from a G to A substitution at nucleotide position 517, causing the aspartic acid (D) at amino acid position 173 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005003783 SCV005631152 uncertain significance Amelogenesis imperfecta hypomaturation type 2A3 2024-04-30 criteria provided, single submitter clinical testing

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