ClinVar Miner

Submissions for variant NM_182758.4(WDR72):c.1877A>G (p.His626Arg)

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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 RCV004480634 SCV004979847 uncertain significance Inborn genetic diseases 2023-11-06 criteria provided, single submitter clinical testing The c.1877A>G (p.H626R) alteration is located in exon 14 (coding exon 13) of the WDR72 gene. This alteration results from a A to G substitution at nucleotide position 1877, causing the histidine (H) at amino acid position 626 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005006417 SCV005638171 uncertain significance Amelogenesis imperfecta hypomaturation type 2A3 2024-04-02 criteria provided, single submitter clinical testing

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