ClinVar Miner

Submissions for variant NM_000412.5(HRG):c.1306G>A (p.Gly436Arg)

gnomAD frequency: 0.00440  dbSNP: rs2229331
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000998186 SCV001154121 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing HRG: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000998186 SCV005189921 uncertain significance not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003973013 SCV004789294 benign HRG-related disorder 2020-11-10 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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