ClinVar Miner

Submissions for variant NM_012205.3(HAAO):c.703G>C (p.Gly235Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics Laboratory, Skane University Hospital Lund RCV004697327 SCV005196695 uncertain significance not provided 2022-05-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003939512 SCV004748791 benign HAAO-related disorder 2019-06-08 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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