ClinVar Miner

Submissions for variant NM_182758.4(WDR72):c.965G>A (p.Arg322His)

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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 RCV005522975 SCV006193132 uncertain significance Inborn genetic diseases 2025-06-10 criteria provided, single submitter clinical testing The c.965G>A (p.R322H) alteration is located in exon 10 (coding exon 9) of the WDR72 gene. This alteration results from a G to A substitution at nucleotide position 965, causing the arginine (R) at amino acid position 322 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005003087 SCV005631128 likely benign Amelogenesis imperfecta hypomaturation type 2A3 2024-04-04 criteria provided, single submitter clinical testing

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